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Mohamad Abdul Mikati

Mohamad Abdul Mikati

Professor of Pediatrics
Pediatrics, Neurology
mohamad.mikati@duke.edu
Box 3936 Med Ctr, Durham, NC 27710
315 Trent Drive, Hanes House, Suite 345, Durham, NC 27710

Selected Publications

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

Journal Article JAMA Pediatr · March 3, 2025 IMPORTANCE: Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3-encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC is primarily a neurologic disease, some individuals experie ... Full text Link to item Cite

Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation.

Journal Article Epilepsia · March 2025 OBJECTIVE: This study was undertaken to test the following hypotheses in the Atp1a3Mashl/+ mouse (which carries the most common human ATP1A3 (the major subunit of the neuronal Na+/K+-adenosine triphosphatase [ATPase]) mutation, D801N): sudden unexpected de ... Full text Link to item Cite

Critical Events in Patients With Alternating Hemiplegia of Childhood: A Cohort Study Subgroup Analysis.

Journal Article AANA J · February 1, 2025 People with alternating hemiplegia of childhood undergoing general anesthesia are at risk for severe complications including critical bradycardia and hemiplegic incidents. We performed a 10-year historical cohort study and completed a subgroup analysis of ... Full text Link to item Cite

Lack of association of first and second-line medication dosing and progression to refractory status epilepticus in children.

Journal Article Seizure · December 2024 PURPOSE: Evaluate the relationship between first and second-line medication dosing and progression to refractory status epilepticus (RSE) in children. METHODS: This is a retrospective analysis of prospectively collected data from September 2014 to February ... Full text Link to item Cite

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Journal Article medRxiv · October 31, 2024 BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare disorder with both neurologic and cardiac manifestations. The ATP1A3-D801N variant is associated with a pathologically short QT interval and risk of ventricular arrhythmia following bradycardi ... Full text Link to item Cite

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

Journal Article Genet Med · September 2024 PURPOSE: We identified 2 individuals with de novo variants in SREBF2 that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestati ... Full text Link to item Cite

Attenuating midline thalamus bursting to mitigate absence epilepsy.

Journal Article Proc Natl Acad Sci U S A · July 9, 2024 Advancing the mechanistic understanding of absence epilepsy is crucial for developing new therapeutics, especially for patients unresponsive to current treatments. Utilizing a recently developed mouse model of absence epilepsy carrying the BK gain-of-funct ... Full text Link to item Cite

Artificial Intelligence: Fundamentals and Breakthrough Applications in Epilepsy.

Journal Article Epilepsy Curr · March 31, 2024 Artificial intelligence, machine learning, and deep learning are increasingly being used in all medical fields including for epilepsy research and clinical care. Already there have been resultant cutting-edge applications in both the clinical and research ... Full text Link to item Cite

Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.

Journal Article Eur J Paediatr Neurol · March 2024 BACKGROUND: Many alternating hemiplegia of childhood (AHC) patients have received Cannabidiol (CBD) but, to our knowledge, there are no published data available. GOALS: Test the hypothesis that CBD has favorable effects on AHC spells. METHODS: Retrospectiv ... Full text Link to item Cite

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Journal Article Eur J Hum Genet · February 2024 Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC have a de novo missense va ... Full text Link to item Cite

Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.

Journal Article Eur J Paediatr Neurol · January 2024 BACKGROUND: Non-sleep related apnea (NSA) has been observed in alternating hemiplegia of childhood (AHC) but has yet to be characterized. GOALS: Investigate the following hypotheses: 1) AHC patients manifest NSA that is often severe. 2) NSA is usually trig ... Full text Link to item Cite

Nodding Syndrome

Chapter · January 1, 2024 Full text Cite

Neonatal Seizures

Chapter · January 1, 2024 Full text Cite

Unprovoked Seizures

Chapter · January 1, 2024 Full text Cite

Status Epilepticus

Chapter · January 1, 2024 Full text Cite

Mechanisms of Seizures

Chapter · January 1, 2024 Full text Cite

Febrile Seizures

Chapter · January 1, 2024 Full text Cite

Conditions That Mimic Seizures

Chapter · January 1, 2024 Full text Cite

Pediatric status epilepticus management by Emergency Medical Services (the pSERG cohort).

Journal Article Seizure · October 2023 PURPOSE: Delayed treatment in status epilepticus (SE) is independently associated with increased treatment resistance, morbidity, and mortality. We describe the prehospital management pathway and Emergency Medical Services (EMS) timeliness in children who ... Full text Link to item Cite

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.

Journal Article J Child Neurol · October 2023 Here, we describe the process of development of the methodology for an international multicenter natural history study of alternating hemiplegia of childhood as a prototype disease for rare neurodevelopmental disorders. We describe a systematic multistep a ... Full text Link to item Cite

Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.

Journal Article Eur J Paediatr Neurol · September 2023 BACKGROUND: Developing methods to record Alternating Hemiplegia of Childhood (AHC) spells is essential for clinical trials and patient care. OBJECTIVES: Test the following hypotheses: 1) Video-library training improves participants' ability to correctly id ... Full text Link to item Cite

Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.

Journal Article Neurology · August 1, 2023 BACKGROUND AND OBJECTIVES: The objective of this study was to determine patient-specific factors known proximate to the presentation to emergency care associated with the development of refractory convulsive status epilepticus (RSE) in children. METHODS: A ... Full text Link to item Cite

Highlights From the Annual Meeting of the American Epilepsy Society 2022

Journal Article Epilepsy Currents · January 1, 2023 With more than 6000 attendees between in-person and virtual offerings, the American Epilepsy Society Meeting 2022 in Nashville, felt as busy as in prepandemic times. An ever-growing number of physicians, scientists, and allied health professionals gathered ... Full text Cite

Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.

Journal Article Ann Neurol · December 19, 2022 OBJECTIVE: Genetic factors have long been debated as a cause of failure of surgery for mesial temporal lobe epilepsy (MTLE). We investigated whether rare genetic variation influences seizure outcomes of MTLE surgery. METHODS: We performed an international, ... Full text Link to item Cite

Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial.

Journal Article Dev Med Child Neurol · December 2022 AIM: To evaluate safety and motor function after treatment with allogeneic umbilical cord blood (AlloCB) or umbilical cord tissue-derived mesenchymal stromal cells (hCT-MSC) in children with cerebral palsy (CP). METHOD: Ninety-one children (52 males, 39 fe ... Full text Open Access Link to item Cite

Role of Pediatricians, Pediatric Associations, and Academic Departments in Ensuring Optimal Early Childhood Development Globally: Position Paper of the International Pediatric Association.

Journal Article J Dev Behav Pediatr · October 2022 Early childhood (birth-8 years), particularly the first 3 years, is the most critical time in development because of the highly sensitive developing brain. Providing appropriate developmental care (i.e., nurturing care, as defined by the World Health Organ ... Full text Open Access Link to item Cite

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Journal Article Brain · August 27, 2022 Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants have ... Full text Link to item Cite

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Journal Article Hum Mol Genet · August 25, 2022 DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with pro ... Full text Open Access Link to item Cite

Anesthetic Implications in Alternating Hemiplegia of Childhood: A Case Report.

Journal Article AANA J · August 2022 The following case report describes a 13-year-old child with alternating hemiplegia of childhood (AHC) who underwent magnetic resonance imaging MRI with general anesthesia and experienced a hemiplegic spell, seizure, apnea, and sudden cardiac arrest with s ... Link to item Cite

Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.

Journal Article Eur J Paediatr Neurol · May 2022 BACKGROUND: Alternating hemiplegia of childhood (AHC) pathophysiology suggests predisposition to sedation and anesthesia complications. GOALS: Hypotheses: 1) AHC patients experience high rates of sedation-anesthesia complications. 2) ATP1A3 mutation genoty ... Full text Link to item Cite

Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.

Journal Article Proc Natl Acad Sci U S A · March 22, 2022 A growing number of gain-of-function (GOF) BK channelopathies have been identified in patients with epilepsy and movement disorders. Nevertheless, the underlying pathophysiology and corresponding therapeutics remain obscure. Here, we utilized a knock-in mo ... Full text Link to item Cite

US Food and Drug Administration Facilitated Pediatric Approval Programs: Application to Pediatric Neurological Disorders.

Journal Article J Child Neurol · March 2022 Crucial time is often lost while waiting for approval of therapies for pediatric neurological disorders, many of which have aggressive manifestations with devastating effects. There are logistical, ethical, and financial impediments that face the studies n ... Full text Link to item Cite

Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy.

Journal Article Epileptic Disord · February 1, 2022 Mutations in the ATP1A3 gene (which encodes the main α subunit in neuronal Na+/K+-ATPases) cause various neurological syndromes including alternating hemiplegia of childhood. This rare disorder is characterized by paroxysmal episodes of hemiplegia, dystoni ... Full text Link to item Cite

Genomic analysis of "microphenotypes" in epilepsy.

Journal Article Am J Med Genet A · January 2022 Large international consortia examining the genomic architecture of the epilepsies focus on large diagnostic subgroupings such as "all focal epilepsy" and "all genetic generalized epilepsy". In addition, phenotypic data are generally entered into these lar ... Full text Link to item Cite

Antiseizure Medication Withdrawal in Seizure-Free Patients: Practice Advisory Update Summary: Report of the AAN Guideline Subcommittee.

Journal Article Neurology · December 7, 2021 OBJECTIVE: To update a 1996 American Academy of Neurology practice parameter. METHODS: The authors systematically reviewed literature published from January 1991 to March 2020. RESULTS: The long-term (24-60 months) risk of seizure recurrence is possibly hi ... Full text Link to item Cite

Super-Refractory Status Epilepticus in Children: A Retrospective Cohort Study.

Journal Article Pediatr Crit Care Med · December 1, 2021 OBJECTIVES: To characterize the pediatric super-refractory status epilepticus population by describing treatment variability in super-refractory status epilepticus patients and comparing relevant clinical characteristics, including outcomes, between super- ... Full text Link to item Cite

OrphanAnesthesia

Journal Article Anasthesiologie und Intensivmedizin · December 1, 2021 AHC is a very rare neurological disorder first described in 1971 which has received increasing interest recently [1]. It is characterised by hemiplegia of either side of the body, paroxysmal tonic or dystonic spells, oculomotor abnormalities and developmen ... Full text Cite

Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant.

Journal Article Neurology · November 30, 2021 Hereditary hyperekplexia is a rare neurologic disorder characterized by an exaggerated startle response with profound muscle stiffness.1,2 Given the nature of the spells, this condition is often misdiagnosed as epilepsy. Mutations in glycine receptors and ... Full text Link to item Cite

Benzodiazepine administration patterns before escalation to second-line medications in pediatric refractory convulsive status epilepticus.

Journal Article Epilepsia · November 2021 OBJECTIVE: This study was undertaken to evaluate benzodiazepine (BZD) administration patterns before transitioning to non-BZD antiseizure medication (ASM) in pediatric patients with refractory convulsive status epilepticus (rSE). METHODS: This retrospectiv ... Full text Link to item Cite

ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Journal Article J Am Heart Assoc · September 7, 2021 Background Pathogenic variation in the ATP1A3-encoded sodium-potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy, the pathophysiologic ... Full text Open Access Link to item Cite

Sibling umbilical cord blood infusion is safe in young children with cerebral palsy.

Journal Article Stem Cells Transl Med · September 2021 Preclinical and early phase clinical studies suggest that an appropriately dosed umbilical cord blood (CB) infusion has the potential to help improve motor function in young children with cerebral palsy (CP). As many children with CP do not have their own ... Full text Open Access Link to item Cite

Factors associated with long-term outcomes in pediatric refractory status epilepticus.

Journal Article Epilepsia · September 2021 OBJECTIVE: This study was undertaken to describe long-term clinical and developmental outcomes in pediatric refractory status epilepticus (RSE) and identify factors associated with new neurological deficits after RSE. METHODS: We performed retrospective an ... Full text Link to item Cite

Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.

Journal Article Pediatr Neurol · July 2021 BACKGROUND: Time to treatment in pediatric refractory status epilepticus is delayed. We aimed to evaluate the influence of weekends and holidays on time to treatment of this pediatric emergency. METHODS: We performed a retrospective analysis of prospective ... Full text Link to item Cite

Clinical presentation of new onset refractory status epilepticus in children (the pSERG cohort).

Journal Article Epilepsia · July 2021 OBJECTIVE: We aimed to characterize the clinical profile and outcomes of new onset refractory status epilepticus (NORSE) in children, and investigated the relationship between fever onset and status epilepticus (SE). METHODS: Patients with refractory SE (R ... Full text Link to item Cite

Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review

Journal Article Journal of Pediatric Neurology · June 1, 2021 CIC encodes capicua protein, a transcriptional repressor that is highly expressed in developing brains. A previous study reported pathogenic mutations in the CIC gene in five individuals with significant neurodevelopmental disorders of intellectual disabil ... Full text Cite

Hypothalamic-pituitary dysfunction in alternating hemiplegia of childhood.

Journal Article Eur J Paediatr Neurol · May 2021 BACKGROUND: Many central nervous system disorders result in hypothalamic-pituitary (HP) axis dysfunction. Alternating Hemiplegia of Childhood (AHC) is usually caused by mutations in the ATP1A3 subunit of the Na+/K+ ATPase, predominantly affecting GABAergic ... Full text Link to item Cite

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Conference Genet Med · April 2021 PURPOSE: This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals. METHODS: Individua ... Full text Link to item Cite

Cognitive and motor function in adults with spina bifida myelomeningocele: a pilot study.

Journal Article Childs Nerv Syst · April 2021 PURPOSE: Determine the feasibility and utility of using a battery of tests utilized, so far, to assess neurological-cognitive functions in the typical adult population and identify the spectrum of these functions in adult SBM patients. METHODS: Prospective ... Full text Link to item Cite

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.

Journal Article Hum Gene Ther · April 2021 Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of ... Full text Link to item Cite

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Journal Article Epilepsy Behav · March 2021 BACKGROUND: ATP1A2 mutations cause hemiplegic migraine with or without epilepsy or acute reversible encephalopathy. Typical onset is in adulthood or older childhood without subsequent severe long-term developmental impairments. AIM: We aimed to describe th ... Full text Open Access Link to item Cite

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Journal Article Am J Hum Genet · February 4, 2021 Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, while t ... Full text Link to item Cite

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Journal Article Am J Hum Genet · February 4, 2021 Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant ty ... Full text Link to item Cite

Therapy of Lennox-Gastaut syndrome.

Journal Article Epilepsy Behav · February 2021 Full text Link to item Cite

Paroxysmal Genetic Movement Disorders and Epilepsy.

Journal Article Front Neurol · 2021 Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. In recent years, there has been renewed interest and recognition of these disorder ... Full text Link to item Cite

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.

Journal Article Brain Commun · 2021 Alternating hemiplegia of childhood is a rare neurodevelopmental disorder caused by ATP1A3 mutations. Some evidence for disease progression exists, but there are few systematic analyses. Here, we evaluate alternating hemiplegia of childhood progression in ... Full text Link to item Cite

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Journal Article Neurology · November 24, 2020 OBJECTIVE: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. METHODS: Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebel ... Full text Open Access Link to item Cite

First-line medication dosing in pediatric refractory status epilepticus.

Journal Article Neurology · November 10, 2020 OBJECTIVE: To identify factors associated with low benzodiazepine (BZD) dosing in patients with refractory status epilepticus (RSE) and to assess the impact of BZD treatment variability on seizure cessation. METHODS: This was a retrospective study with pro ... Full text Link to item Cite

A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.

Journal Article Mov Disord · October 2020 BACKGROUND: The mutations of KCNMA1 BK-type K+ channel have been identified in patients with various movement disorders. The underlying pathophysiology and corresponding therapeutics are lacking. OBJECTIVES: To report our clinical and biophysical character ... Full text Link to item Cite

Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood.

Journal Article Pediatr Neurol · October 2020 BACKGROUND: Alternating hemiplegia of childhood often manifests severe or extreme behavioral problems, the nature of which remains to be fully characterized. METHODS: We analyzed 39 consecutive patients with alternating hemiplegia of childhood for occurren ... Full text Link to item Cite

D-DEMĂ˜, a distinct phenotype caused by ATP1A3 mutations.

Journal Article Neurol Genet · October 2020 OBJECTIVE: To describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ă˜) (D-DEMĂ˜), and ne ... Full text Open Access Link to item Cite

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.

Journal Article Orphanet J Rare Dis · September 3, 2020 BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is caused by mutations of the ATP1A3 gene which is expressed in brain areas that include structures controling autonomic, gastrointestinal, gut motility and GABAergic functions. We aimed to investigate, ... Full text Open Access Link to item Cite

Association of guideline publication and delays to treatment in pediatric status epilepticus.

Journal Article Neurology · September 1, 2020 OBJECTIVE: To determine whether publication of evidence on delays in time to treatment shortens time to treatment in pediatric refractory convulsive status epilepticus (rSE), we compared time to treatment before (2011-2014) and after (2015-2019) publicatio ... Full text Link to item Cite

Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions.

Journal Article Pediatr Neurol · September 2020 The past few years have witnessed rapid developments in viral-mediated gene replacement therapy for pediatric central nervous system neurogenetic disorders. Here, we provide pediatric neurologists with an up-to-date, comprehensive overview of these develop ... Full text Link to item Cite

Social impairments in alternating hemiplegia of childhood.

Journal Article Dev Med Child Neurol · July 2020 AIM: To evaluate presence and severity of social impairments in alternating hemiplegia of childhood (AHC) and determine factors that are associated with social impairments. METHOD: This was a retrospective analysis of 34 consecutive patients with AHC (19 f ... Full text Link to item Cite

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.

Journal Article Ann Neurol · June 2020 OBJECTIVE: The mechanisms by which antiepileptic drugs (AEDs) cause birth defects (BDs) are unknown. Data suggest that AED-induced BDs may result from a genome-wide increase of de novo variants in the embryo, a mechanism that we investigated. METHODS: Whol ... Full text Link to item Cite

Magnetic resonance imaging volumetric analysis in patients with Alternating hemiplegia of childhood: A pilot study.

Journal Article Eur J Paediatr Neurol · May 2020 Quantitative MRI is increasingly being used as a biomarker in neurological disorders. Cerebellar atrophy occurs in some Alternating Hemiplegia of Childhood (AHC) patients. However, it is not known if cerebellar atrophy can be a potential biomarker in AHC o ... Full text Link to item Cite

Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.

Journal Article Neurology · February 18, 2020 Childhood-onset dystonias are a heterogeneously diverse group. There exists a specific set of dystonias that respond profoundly well to low doses of l-dopa (dopa-responsive dystonia [DRD]). Classical DRD is caused by deficiency of GTP cyclohydrolase 1 or t ... Full text Link to item Cite

Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.

Journal Article Epileptic Disord · February 1, 2020 Mutations in ATP1A3 have been found to cause rapid-onset dystonia Parkinsonism, alternating hemiplegia of childhood, epileptic encephalopathy and other syndromes. We report a four-year, nine-month-old boy with episodes of frequent and recurrent status epil ... Full text Link to item Cite

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Journal Article Eur J Hum Genet · January 2020 PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations in this ... Full text Link to item Cite

The Rights of Children for Optimal Development and Nurturing Care.

Journal Article Pediatrics · December 2019 Millions of children are subjected to abuse, neglect, and displacement, and millions more are at risk for not achieving their developmental potential. Although there is a global movement to change this, driven by children's rights, progress is slow and imp ... Full text Link to item Cite

A Genocentric Approach to Discovery of Mendelian Disorders.

Journal Article Am J Hum Genet · November 7, 2019 The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of their cli ... Full text Open Access Link to item Cite

Familial electro-clinical syndromes and epilepsies in adolescence to adulthood

Chapter · October 11, 2019 Autosomal dominant epilepsy with auditory features (ADEAF), also referred to as autosomal dominant lateral temporal epilepsy (ADLTE), is one type of familial temporal lobe epilepsy. ... Full text Cite

The epileptology of alternating hemiplegia of childhood.

Journal Article Neurology · September 24, 2019 OBJECTIVE: To report our experience and investigate 5 original hypotheses: (1) multiple types of epileptic seizures occur in alternating hemiplegia of childhood (AHC), and these can be the initial presentation; (2) epileptiform abnormalities often appear w ... Full text Link to item Cite

Electroencephalographic Reporting for Refractory Status Epilepticus.

Journal Article J Clin Neurophysiol · September 2019 PURPOSE: We aimed to determine whether clinical EEG reports obtained from children in the intensive care unit with refractory status epilepticus could provide data for comparative effectiveness research studies. METHODS: We conducted a retrospective descri ... Full text Link to item Cite

The onset of pediatric refractory status epilepticus is not distributed uniformly during the day.

Journal Article Seizure · August 2019 PURPOSE: To evaluate whether the onset of pediatric refractory status epilepticus (rSE) is related to time of day. METHOD: We analyzed the time of day for the onset of rSE in this prospective observational study performed from June 2011 to May 2019 in pedi ... Full text Link to item Cite

Novel therapies for epilepsy in the pipeline.

Journal Article Epilepsy Behav · August 2019 Despite the availability of many antiepileptic drugs (AEDs) (old and newly developed) and, as recently suggested, their optimization in the treatment of patients with uncontrolled seizures, more than 30% of patients with epilepsy continue to experience sei ... Full text Link to item Cite

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.

Journal Article Dev Med Child Neurol · May 2019 AIM: To determine the neuropsychological abnormalities that occur in alternating hemiplegia of childhood (AHC) and report on our experience in managing them. METHOD: Patients underwent evaluations according to our standardized AHC pathway. Data were entere ... Full text Link to item Cite

The expanding spectrum of ATP1A3 related disease.

Journal Article Eur J Paediatr Neurol · May 2019 Full text Link to item Cite

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.

Journal Article J Clin Sleep Med · January 15, 2019 STUDY OBJECTIVES: Patients with alternating hemiplegia of childhood (AHC) experience bouts of hemiplegia and other paroxysmal spells that resolve during sleep. Patients often have multiple comorbidities that could negatively affect sleep, yet sleep quality ... Full text Link to item Cite

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

Journal Article Am J Hum Genet · January 3, 2019 The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented systematic sequencing of neonates and young children with a suspected genetic disorder. Here, we r ... Full text Open Access Link to item Cite

MRI-guided laser interstitial thermal therapy in an infant with tuberous sclerosis: technical case report.

Journal Article J Neurosurg Pediatr · January 1, 2019 Cortical tubers associated with tuberous sclerosis complex (TSC) are potential epileptic foci that are often amenable to resective or ablative surgeries, and controlling seizures at a younger age may lead to improved functional outcomes. MRI-guided laser i ... Full text Link to item Cite

Novel E815K knock-in mouse model of alternating hemiplegia of childhood.

Journal Article Neurobiol Dis · November 2018 De novo mutations causing dysfunction of the ATP1A3 gene, which encodes the α3 subunit of Na+/K+-ATPase pump expressed in neurons, result in alternating hemiplegia of childhood (AHC). AHC manifests as paroxysmal episodes of hemiplegia, dystonia, behavioral ... Full text Link to item Cite

Hospital Emergency Treatment of Convulsive Status Epilepticus: Comparison of Pathways From Ten Pediatric Research Centers.

Journal Article Pediatr Neurol · September 2018 OBJECTIVE: We aimed to evaluate and compare the status epilepticus treatment pathways used by pediatric status epilepticus research group (pSERG) hospitals in the United States and the American Epilepsy Society (AES) status epilepticus guideline. METHODS: ... Full text Link to item Cite

Efficacy and safety of ketogenic diet for treatment of pediatric convulsive refractory status epilepticus.

Journal Article Epilepsy Res · August 2018 PURPOSE: To describe the efficacy and safety of ketogenic diet (KD) for convulsive refractory status epilepticus (RSE). METHODS: RSE patients treated with KD at the 6/11 participating institutions of the pediatric Status Epilepticus Research Group from Jan ... Full text Link to item Cite

Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.

Journal Article Epilepsia · July 2018 OBJECTIVE: Na+ /K+ -ATPase dysfunction, primary (mutation) or secondary (energy crisis, neurodegenerative disease) increases neuronal excitability in the brain. To evaluate the mechanisms underlying such increased excitability we studied mice carrying the ... Full text Link to item Cite

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Journal Article Ann Neurol · June 2018 OBJECTIVE: Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including nonlesional focal epilepsy (NLFE). Th ... Full text Link to item Cite

Factors associated with treatment delays in pediatric refractory convulsive status epilepticus.

Journal Article Neurology · May 8, 2018 OBJECTIVE: To identify factors associated with treatment delays in pediatric patients with convulsive refractory status epilepticus (rSE). METHODS: This prospective, observational study was performed from June 2011 to March 2017 on pediatric patients (1 mo ... Full text Link to item Cite

Association of Time to Treatment With Short-term Outcomes for Pediatric Patients With Refractory Convulsive Status Epilepticus.

Journal Article JAMA Neurol · April 1, 2018 IMPORTANCE: Treatment delay for seizures can lead to longer seizure duration. Whether treatment delay is associated with major adverse outcomes, such as death, remains unknown. OBJECTIVE: To evaluate whether untimely first-line benzodiazepine treatment is ... Full text Link to item Cite

Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature.

Journal Article Seizure · February 2018 PURPOSE: Gain-of-function mutations in the KCNT1 gene have been reported in a number of drug resistant epilepsy syndromes including Epilepsy of Infancy with Migrating Focal Seizures. Quinidine, a potassium channel blocker, has been proposed as a potential ... Full text Link to item Cite

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.

Journal Article Epileptic Disord · February 1, 2018 Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had he ... Full text Link to item Cite

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Journal Article Am J Hum Genet · January 4, 2018 Although the role of typical Rho GTPases and other Rho-linked proteins in synaptic plasticity and cognitive function and dysfunction is widely acknowledged, the role of atypical Rho GTPases (such as RHOBTB2) in neurodevelopment has barely been characterize ... Full text Link to item Cite

Visual hallucinations: A novel complication after hemispherectomy.

Journal Article Epilepsy Behav Case Rep · 2018 Two patients at our center experienced florid visual hallucinations following hemispherectomy. The first patient had drug-resistant left hemispheric focal seizures at 20 months of age from a previous stroke. Following functional hemispherectomy at age 3, h ... Full text Open Access Link to item Cite

Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.

Journal Article Neurologist · January 2018 INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1 DS) is caused by impaired glucose transport across the blood-brain barrier and commonly presents as severe early onset epilepsy, developmental delay, and movement abnormalities. In rare in ... Full text Link to item Cite

Effect of Autologous Cord Blood Infusion on Motor Function and Brain Connectivity in Young Children with Cerebral Palsy: A Randomized, Placebo-Controlled Trial.

Journal Article Stem Cells Transl Med · December 2017 Cerebral palsy (CP) is a condition affecting young children that causes lifelong disabilities. Umbilical cord blood cells improve motor function in experimental systems via paracrine signaling. After demonstrating safety, we conducted a phase II trial of a ... Full text Open Access Link to item Cite

Novel clinical manifestations in patients with KCNA2 mutations.

Journal Article Seizure · October 2017 PURPOSE: To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy. METHODS: Blood samples were sent for whole exome and Sanger sequencing. Seizure types were characterized by clinical criteria and EEG recording. RESULTS: K ... Full text Link to item Cite

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Journal Article Cold Spring Harb Mol Case Stud · September 2017 Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target of rapamycin (mTOR) regulatory genes have been implicated in some HME cases; however, ∼70% have ... Full text Open Access Link to item Cite

Motor function domains in alternating hemiplegia of childhood.

Journal Article Dev Med Child Neurol · August 2017 AIM: To characterize motor function profiles in alternating hemiplegia of childhood, and to investigate interrelationships between these domains and with age. METHOD: We studied a cohort of 23 patients (9 males, 14 females; mean age 9y 4mo, range 4mo-43y) ... Full text Link to item Cite

Epilepsy in neurofibromatosis type 1.

Journal Article Epilepsy Behav · August 2017 OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen duri ... Full text Link to item Cite

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

Journal Article Epilepsia · March 2017 OBJECTIVE: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. METHODS: Ten children with heterozygous, de novo KCNQ2 R201C or R2 ... Full text Link to item Cite

Managing Lafora body disease with vagal nerve stimulation.

Journal Article Epileptic Disord · March 1, 2017 A 17-year-old female, of consanguineous parents, presented with a history of seizures and cognitive decline since the age of 12 years. She had absence, focal dyscognitive, generalized myoclonic, and generalized tonic-clonic seizures, all of which were drug ... Full text Link to item Cite

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Journal Article Am J Hum Genet · February 2, 2017 Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurode ... Full text Link to item Cite

Diagnosis and Treatment of Alternating Hemiplegia of Childhood.

Journal Article Curr Treat Options Neurol · February 2017 The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its ... Full text Link to item Cite

Refractory status epilepticus in children with and without prior epilepsy or status epilepticus.

Journal Article Neurology · January 24, 2017 OBJECTIVE: To compare refractory convulsive status epilepticus (rSE) management and outcome in children with and without a prior diagnosis of epilepsy and with and without a history of status epilepticus (SE). METHODS: This was a prospective observational ... Full text Link to item Cite

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

Journal Article Epilepsia · January 2017 Variants in KCNQ2 encoding for Kv 7.2 neuronal K+ channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whereas few incr ... Full text Link to item Cite

Refractory Status Epilepticus in Children: Intention to Treat With Continuous Infusions of Midazolam and Pentobarbital.

Journal Article Pediatr Crit Care Med · October 2016 OBJECTIVE: To describe pediatric patients with convulsive refractory status epilepticus in whom there is intention to use an IV anesthetic for seizure control. DESIGN: Two-year prospective observational study evaluating patients (age range, 1 mo to 21 yr) ... Full text Link to item Cite

Introduction

Journal Article Studies in American Political Development · October 2016 Full text Cite

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Journal Article Nat Genet · September 2016 The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive ... Full text Link to item Cite

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

Journal Article Semin Pediatr Neurol · May 2016 Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of infancy and childhood. With the advances in genetic testing and neuroimaging, the etiologies of the ... Full text Link to item Cite

Current and Emerging Therapies of Severe Epileptic Encephalopathies.

Journal Article Semin Pediatr Neurol · May 2016 In this article, we review the treatment options for the pediatric epileptic encephalopathies and provide an update on the new and emerging therapies targeted at the underlying pathophysiology of many of these syndromes. We illustrate how the identificatio ... Full text Link to item Cite

Pediatric Sudden Unexpected Death in Epilepsy: What Have we Learned from Animal and Human Studies, and Can we Prevent it?

Journal Article Semin Pediatr Neurol · May 2016 Several factors, such as epilepsy syndrome, poor compliance, and increased seizure frequency increase the risks of sudden unexpected death in epilepsy (SUDEP). Animal models have revealed that the mechanisms of SUDEP involve initially a primary event, ofte ... Full text Link to item Cite

Introduction.

Journal Article Semin Pediatr Neurol · May 2016 Full text Link to item Cite

Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.

Journal Article Epileptic Disord · March 2016 Landau-Kleffner syndrome (LKS) has been demonstrated in the past to respond to immunotherapy. Recently, some cases of LKS have been shown to be secondary to glutamate receptor (GRIN2A) mutations. Whether such cases respond to immunotherapy is not known. He ... Full text Link to item Cite

Metabolic Epilepsies

Chapter · 2016 Cite

Seizure Semiology

Chapter · 2016 Cite

Quinidine in the treatment of KCNT1-positive epilepsies.

Journal Article Ann Neurol · December 2015 We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with ... Full text Link to item Cite

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Journal Article Epileptic Disord · December 2015 WDR45 mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms. Although various seizure types may occur, epileptic spasms have not b ... Full text Link to item Cite

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Journal Article Cold Spring Harb Mol Case Stud · October 2015 Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune ... Full text Link to item Cite

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Journal Article Cold Spring Harb Mol Case Stud · October 2015 One of the most promising outcomes of whole-exome sequencing (WES) is the alteration of medical management following an accurate diagnosis in patients with previously unresolved disorders. Although case reports of targeted therapies resulting from WES have ... Full text Link to item Cite

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Journal Article Brain · October 2015 Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'. The disorder is ch ... Full text Link to item Cite

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Journal Article Orphanet J Rare Dis · September 26, 2015 BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations wit ... Full text Link to item Cite

Time from convulsive status epilepticus onset to anticonvulsant administration in children.

Journal Article Neurology · June 9, 2015 OBJECTIVE: To describe the time elapsed from onset of pediatric convulsive status epilepticus (SE) to administration of antiepileptic drug (AED). METHODS: This was a prospective observational cohort study performed from June 2011 to June 2013. Pediatric pa ... Full text Link to item Cite

Genetics of pediatric epilepsy.

Journal Article Pediatr Clin North Am · June 2015 As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause different epilepsy syndromes, making identification ... Full text Link to item Cite

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Journal Article Elife · May 30, 2015 Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identif ... Full text Link to item Cite

Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization.

Journal Article Epilepsia · January 2015 OBJECTIVES: Mutations in the ATP1α3 subunit of the neuronal Na+/K+-ATPase are thought to be responsible for seizures, hemiplegias, and other symptoms of alternating hemiplegia of childhood (AHC). However, the mechanisms through which ATP1A3 mutations media ... Full text Link to item Cite

Brain structural connectivity increases concurrent with functional improvement: evidence from diffusion tensor MRI in children with cerebral palsy during therapy.

Journal Article Neuroimage Clin · 2015 Cerebral Palsy (CP) refers to a heterogeneous group of permanent but non-progressive movement disorders caused by injury to the developing fetal or infant brain (Bax et al., 2005). Because of its serious long-term consequences, effective interventions that ... Full text Open Access Link to item Cite

Reply: To PMID 23913408.

Journal Article Hepatology · October 2014 Full text Link to item Cite

Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

Journal Article Epilepsy Behav · August 2014 RATIONALE: The utility of genetic testing in pediatric drug-resistant epilepsy (PDRE), its yield in "real life" clinical practice, and the practical implications of such testing are yet to be determined. GOAL: To start to address the above gaps in our know ... Full text Link to item Cite

Distinct neurological disorders with ATP1A3 mutations.

Journal Article Lancet Neurol · May 2014 Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link ... Full text Link to item Cite

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Journal Article Seizure · February 2014 PURPOSE: Status epilepticus (SE) is a life-threatening condition that can be refractory to initial treatment. Randomized controlled studies to guide treatment choices, especially beyond first-line drugs, are not available. This report summarizes the eviden ... Full text Link to item Cite

Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG)

Journal Article Seizure · January 1, 2014 Purpose Status epilepticus (SE) is a life-threatening condition that can be refractory to initial treatment. Randomized controlled studies to guide treatment choices, especially beyond first-line drugs, are not available. This report summarizes the evidenc ... Full text Cite

The ketogenic diet for the treatment of pediatric status epilepticus.

Journal Article Pediatr Neurol · January 2014 BACKGROUND: Refractory status epilepticus carries a high risk of morbidity and mortality for children. Traditional treatment of status epilepticus consists of multiple anticonvulsant drugs and, if needed, induction of a medical coma. The ketogenic diet has ... Full text Link to item Cite

Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.

Journal Article Clin Biochem · December 2013 BACKGROUND: Diagnosis of aminoacidopathies and organic acidemias constitutes a real challenge in a developing country with high consanguinity rate and no systematic newborn screening. We report a twelve-year experience with the identification of these diso ... Full text Link to item Cite

Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency.

Journal Article Epileptic disorders : international epilepsy journal with videotape · December 2013 AimDescribe the seizure-related manifestations of guanidinoacetate methyltransferase (GAMT) deficiency in two new cases and compare these to the related literature.MethodsWe reviewed the clinical and electroencephalographic manifestations ... Full text Cite

Reorganization and stability for motor and language areas using cortical stimulation: case example and review of the literature.

Journal Article Brain Sci · November 26, 2013 The cerebral organization of language in epilepsy patients has been studied with invasive procedures such as Wada testing and electrical cortical stimulation mapping and more recently with noninvasive neuroimaging techniques, such as functional MRI. In the ... Full text Open Access Link to item Cite

Seizure predisposition after perinatal hypoxia: effects of subsequent age and of an epilepsy predisposing gene mutation.

Journal Article Epilepsia · October 2013 PURPOSE: There is a gap in our knowledge of the factors that modulate the predisposition to seizures following perinatal hypoxia. Herein, we investigate in a mouse model the effects of two distinct factors: developmental stage after the occurrence of the p ... Full text Link to item Cite

Ages and stages questionnaires: adaptation to an Arabic speaking population and cultural sensitivity.

Journal Article Eur J Paediatr Neurol · September 2013 BACKGROUND: Early detection of developmental delay is essential to initiate early intervention. The Ages and Stages Questionnaires (ASQ) correlate well with physician's assessment and have high predictive value. No such tool exists in Arabic. AIMS: Transla ... Full text Link to item Cite

Stiripentol in Dravet syndrome: results of a retrospective U.S. study.

Journal Article Epilepsia · September 2013 PURPOSE: To review the efficacy and tolerability of stiripentol in the treatment of U.S. children with Dravet syndrome. METHODS: U.S. clinicians who had prescribed stiripentol for two or more children with Dravet syndrome between March 2005 and 2012 were c ... Full text Link to item Cite

Enhancing early child development: A handbook for clinicians

Book · January 1, 2013 Early childhood development refers to the skills that children acquire within their first five years of life, which lay the foundation for future learning. Children need care and support to stimulate their growth and healthy development. The stimulation of ... Full text Cite

Ataxia.

Journal Article Handb Clin Neurol · 2013 The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episod ... Full text Link to item Cite

Alternating hemiplegia of childhood.

Journal Article Handb Clin Neurol · 2013 Alternating hemiplegia of childhood (AHC) is a very rare disease characterized by recurrent attacks of loss of muscular tone resulting in hypomobility of one side of the body. The etiology of the disease due to ATP1A3 gene mutations in the majority of pati ... Full text Link to item Cite

Diffuse reduction of white matter connectivity in cerebral palsy with specific vulnerability of long range fiber tracts.

Journal Article Neuroimage Clin · 2013 Cerebral palsy (CP) is a heterogeneous group of non-progressive motor disorders caused by injury to the developing fetal or infant brain. Although the defining feature of CP is motor impairment, numerous other neurodevelopmental disabilities are associated ... Full text Open Access Link to item Cite

Genetic generalized epilepsies.

Journal Article J Clin Neurophysiol · October 2012 In the International League Against Epilepsy's most recent revision of classification and terminology, the term idiopathic epilepsy, previously used to describe those epilepsies whose cause was unknown, but presumed genetic, has been removed. It has been r ... Full text Link to item Cite

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Journal Article Nat Genet · September 2012 Featured Publication Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequ ... Full text Link to item Cite

Epilepsy surgery in a developing country (Lebanon): ten years experience and predictors of outcome.

Journal Article Epileptic Disord · September 2012 Featured Publication We present our 10-year experience and preoperative predictors of outcome in 93 adults and children who underwent epilepsy surgery at the American University of Beirut. Presurgical evaluation included video-EEG monitoring, MRI, neuropsychological assessment ... Full text Link to item Cite

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Journal Article Am J Hum Genet · August 10, 2012 Featured Publication Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear wheth ... Full text Link to item Cite

Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency.

Journal Article Epilepsy Behav · August 2012 Featured Publication Seizure semiology and electroencephalographic (EEG) manifestations of autoimmune-mediated cerebral folate deficiency (CFD) before and after therapy have yet to be fully characterized. Here, we report these findings in two such patients. Our first patient p ... Full text Link to item Cite

Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures.

Journal Article Epileptic Disord · March 2012 Featured Publication Oxcarbazepine has been reported to precipitate myoclonic, generalised tonic-clonic, absence, and complex partial seizures, and carbamazepine to precipitate absences, myoclonic seizures and spasms. Here, we report a one-year, six-month-old girl with complex ... Full text Link to item Cite

Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.

Journal Article Arch Dermatol · January 2012 Featured Publication BACKGROUND: Several forms of ichthyosis are associated with neurologic manifestations, including Sjögren-Larsson syndrome, Refsum disease, and mental retardation-enteropathy-deafness-neuropathy-ichthyosis-keratoderma (MEDNIK) syndrome. We report a case of ... Full text Link to item Cite

Principles of drug treatment in children.

Journal Article Handb Clin Neurol · 2012 Featured Publication Full text Link to item Cite

Two patients with an anti-N-methyl-D-aspartate receptor antibody syndrome-like presentation and negative results of testing for autoantibodies.

Journal Article Pediatr Neurol · December 2011 Featured Publication We describe two boys whose distinct and remarkable clinical pictures suggested the possibility of anti-N-methyl-d-aspartate receptor antibody encephalitis. Both patients responded to immunotherapy, but neither manifested that antibody. Patient 1 exhibited ... Full text Link to item Cite

Inherited thrombophilia in childhood arterial stroke: data from Lebanon.

Journal Article Pediatr Neurol · September 2011 Featured Publication Pediatric ischemic stroke still represents a burden, and more than half of the survivors will experience cognitive or motor disabilities. The objective of this study was to investigate the role of thrombophilia in a cohort of children with arterial ischemi ... Full text Link to item Cite

Structural connectivity of the frontal lobe in children with drug-resistant partial epilepsy.

Journal Article Epilepsy Behav · May 2011 Featured Publication The superior longitudinal fasciculus (SLF) II and cingulum are two white matter tracts important for attention and other frontal lobe functions. These functions are often disturbed in children with drug-resistant (DR) partial epilepsy, even when no abnorma ... Full text Link to item Cite

Care for child development: basic science rationale and effects of interventions.

Journal Article Pediatr Neurol · April 2011 Featured Publication The past few years have witnessed increasing interest in devising programs to enhance early childhood development. We review current understandings of brain development, recent advances in this field, and their implications for clinical interventions. An e ... Full text Link to item Cite

Potential neuroprotective effects of continuous topiramate therapy in the developing brain.

Journal Article Epilepsy Behav · April 2011 Featured Publication Because antiepileptic drug therapy is usually given chronically with resulting concerns about long-term neurotoxicity, and because short-term topiramate (TPM) therapy has been reported to be neuroprotective against the effects of acute hypoxia, we investig ... Full text Link to item Cite

Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

Journal Article Epilepsy Behav · March 2011 Featured Publication We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizu ... Full text Link to item Cite

Oculogyric crises secondary to lamotrigine overdosage.

Journal Article Epilepsia · March 2011 Featured Publication We report four patients with no preexisting movement disorders who developed oculogyric crises secondary to lamotrigine toxicity and had resolution of these crises after dose reduction. Episode numbers ranged from 1-20 per day and episode duration from 2 s ... Full text Link to item Cite

Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation.

Journal Article J Child Neurol · February 2011 Featured Publication We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin me ... Full text Link to item Cite

Differential expression of hippocampal connexins after acute hypoxia in the developing brain.

Journal Article Brain Dev · November 2010 Featured Publication Acute hypoxia at postnatal day (P) 10 is an accepted model of human neonatal hypoxia which results, among other consequences, in increased hippocampal excitability. Hypoxic-ischemic injury, which mimics stroke, has been shown to result in changes in connex ... Full text Link to item Cite

The effect of vagus nerve stimulation therapy on body mass index in children.

Journal Article Epilepsy Behav · September 2010 Featured Publication The effects of vagus nerve stimulation on weight in individuals with epilepsy are not fully characterized. A retrospective review was performed of all pediatric patients who underwent placement of a vagus nerve stimulator at Duke University Medical Center. ... Full text Link to item Cite

Quality of life after surgery for intractable partial epilepsy in children: a cohort study with controls.

Journal Article Epilepsy Res · August 2010 Featured Publication PURPOSE: Investigate if quality of life (QOL) normalizes on long-term follow-up after surgery for partial epilepsy in children. METHODS: This is a cohort study with controls in which a consecutive cohort of nineteen 2-14-year-old children who underwent foc ... Full text Link to item Cite

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.

Journal Article Brain · July 2010 Featured Publication Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease r ... Full text Link to item Cite

Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?

Journal Article Birth Defects Res A Clin Mol Teratol · July 2010 Featured Publication Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a complex, heterogeneous condition characterized by abnormal prenatal development of facial structures. We present the occurrence of Goldenhar syndrome in an infant born to a woman wit ... Full text Link to item Cite

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

Journal Article Am J Hum Genet · May 14, 2010 Featured Publication Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide sc ... Full text Link to item Cite

Therapy of infantile spasms: new opportunities and emerging challenges.

Journal Article Epilepsy Behav · April 2010 Featured Publication Full text Link to item Cite

Intravenous immunoglobulin therapy in intractable childhood epilepsy: open-label study and review of the literature.

Journal Article Epilepsy Behav · January 2010 Featured Publication Our aim was to investigate the long term effectiveness of intravenous immunoglobulin (IVIG) against intractable childhood epilepsy in the era of new antiepileptics and to determine the predictors of a favorable response in a prospective open-label add-on s ... Full text Link to item Cite

What is their fate after magnesium sulfate?

Journal Article Neonatology · 2010 Featured Publication Full text Link to item Cite

Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations.

Journal Article Epileptic Disord · December 2009 Featured Publication OBJECTIVE: Pyridoxine-dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE. MATERIALS AND METHODS: EEG tracings from four patien ... Full text Link to item Cite

Two new familial severe infantile spasm syndromes in males.

Journal Article Epilepsy Behav · April 2009 Featured Publication We describe two new familial severe infantile spasm syndromes (ISSs) unrelated to Aristaless-related homeobox (ARX) gene mutation. Family A contains two male siblings each with dysmorphism, profound psychomotor delay, gastroesophageal reflux, infantile spa ... Full text Link to item Cite

Intraoperative electrocorticography and cortical stimulation in children.

Journal Article J Clin Neurophysiol · April 2009 Featured Publication Intraoperative electrocorticography has been used in the surgical management of children with medically refractory epilepsy to localize anatomic areas of focal seizure onset, guide the extent, and completeness of resective epilepsy surgery, aid in function ... Full text Link to item Cite

Re: Epilepsy-associated bone mineral density loss should be prevented.

Journal Article Neurology · March 10, 2009 Featured Publication Full text Link to item Cite

Quality of life after vagal nerve stimulator insertion.

Journal Article Epileptic Disord · March 2009 Featured Publication AIM: Assess quality-of-life after vagal nerve stimulation and determine patient characteristics associated with improvement in quality-of-life. METHODS: Sixteen patients (11 children, 5 adults) who had vagal nerve stimulation at our center were studied. Qu ... Full text Link to item Cite

Approach to pediatric epilepsy surgery: State of the art, Part II: Approach to specific epilepsy syndromes and etiologies.

Journal Article Eur J Paediatr Neurol · March 2009 Featured Publication The second of this 2-part review depicts the specific approach to the common causes of pediatric refractory epilepsy amenable to surgery. These include tumors, malformations due to abnormal cortical development, vascular abnormalities and certain epileptic ... Full text Link to item Cite

Approach to pediatric epilepsy surgery: State of the art, Part I: General principles and presurgical workup.

Journal Article Eur J Paediatr Neurol · March 2009 Featured Publication In 1990, the National Institute of Health adopted epilepsy surgery in children as an option when medications fail. In the past few years several concepts have become increasingly recognized as key to a successful approach to epilepsy surgery in children. T ... Full text Link to item Cite

Intracarotid propofol testing: a comparative study with amobarbital.

Journal Article Epilepsy Behav · March 2009 Featured Publication Twenty-five consecutive patients who underwent the Wada test using propofol as anesthetic were compared with 15 randomly selected patients who were tested using amobarbital. Time to verbal and nonverbal responses and time to motor power 3/5 did not differ ... Full text Link to item Cite

A child with refractory complex partial seizures, right temporal ganglioglioma, contralateral continuous electrical status epilepticus, and a secondary Landau-Kleffner autistic syndrome.

Journal Article Epilepsy Behav · February 2009 Featured Publication A 7-year-old, right-handed girl started to have seizures at age 1 year 4 months. She developed normally until age 4 when she had worsening of seizures with auditory verbal agnosia, complete aphasia, and a behavioral disorder fulfilling the diagnostic crite ... Full text Link to item Cite

CELL DAMAGE/EXCITOTOXICITY

Chapter · January 1, 2009 Many studies have demonstrated the occurrence of neuronal cell death through necrosis, apoptosis, or other forms of programmed cell death (PCD) in a number of models of status epilepticus (SE). Significant age-related, model-dependent, and regional differe ... Full text Cite

Landau Kleffner Syndrome

Chapter · January 1, 2009 Landau–Kleffner syndrome (LKS) is an acquired epileptic aphasia in which children 3–8years old, who already have developed normal speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, and behavioral disturbanc ... Full text Cite

Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.

Journal Article Eur J Paediatr Neurol · January 2009 Featured Publication We report a case of a young girl with early onset pantothenate kinase-kssociated neurodegeneration (PKAN) whose initial clinical manifestation was ataxia at the age of 2.5 years. Subsequently the patient presented to us with refractory severe dystonia resu ... Full text Link to item Cite

Landau Kleffner Syndrome

Journal Article · January 1, 2009 Landau-Kleffner syndrome (LKS) is an acquired epileptic aphasia in which children 3-8. years old, who already have developed normal speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, and behavioral disturba ... Full text Cite

Pediatric epilepsy surgery in Lebanon

Journal Article Pan Arab Journal of Neurosurgery · December 23, 2008 In this article we review our experience in epilepsy surgery in Lebanon with the 40 pediatric patients who underwent either resective surgery (36 patients) or VNS (vagal nerve stimulation) (4 patients) procedures at the Adult and Pediatric Epilepsy Program ... Cite

Changes in sphingomyelinases, ceramide, Bax, Bcl(2), and caspase-3 during and after experimental status epilepticus.

Journal Article Epilepsy Res · October 2008 Featured Publication Status epilepticus (SE) induces a number of events leading to programmed cell death (PCD). The aim of our work is to study the time sequence of activation of different factors in experimental SE (intraperitoneal kainic acid (KA) model). We studied ceramide ... Full text Link to item Cite

Biotin-responsive basal ganglia disease: case report and review of the literature.

Journal Article Neuropediatrics · October 2008 Featured Publication Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozan ... Full text Link to item Cite

Programmed cell death in the lithium pilocarpine model: evidence for NMDA receptor and ceramide-mediated mechanisms.

Journal Article Brain Dev · September 2008 Featured Publication Ceramide is known to induce programmed cell death (PCD) in neural and non-neural tissues and to increase after kainic acid (KA) status epilepticus (SE). Ceramide increases have been shown to depend on NMDA receptor activation in the KA model, but these cha ... Full text Link to item Cite

Long-term tolerability and efficacy of lamotrigine in infants 1 to 24 months old.

Journal Article J Child Neurol · August 2008 Featured Publication This open-label study was designed to evaluate the long-term tolerability and efficacy of lamotrigine in 1- to 24-month-old infants with partial seizures. The study enrolled both lamotrigine-naĂ¯ve patients and patients who had been previously exposed to la ... Full text Link to item Cite

Predictors of bone density in ambulatory patients on antiepileptic drugs.

Journal Article Bone · July 2008 Featured Publication BACKGROUND AND AIM: Antiepileptic drugs are associated with bone loss and fractures. Data in children is scarce and the impact of new therapies and of low vitamin D is not clear. This study assessed predictors of bone mineral density (BMD) in 225 ambulator ... Full text Link to item Cite

Motor variant of chronic inflammatory demyelinating polyneuropathy in a child.

Journal Article Pediatr Neurol · June 2008 Featured Publication Only 2 cases of pure motor chronic demyelinating inflammatory polyneuropathy in the pediatric age group have been reported in the literature. We report on a motor variant of chronic demyelinating inflammatory polyneuropathy with anti-ganglioside antibodies ... Full text Link to item Cite

Adjunctive lamotrigine for partial seizures in patients aged 1 to 24 months.

Journal Article Neurology · May 27, 2008 Featured Publication OBJECTIVE: This randomized, double-blind, placebo-controlled trial was conducted to assess the efficacy and tolerability of adjunctive lamotrigine for the treatment of partial seizures in infants aged 1 to 24 months. METHODS: The study used a responder-enr ... Full text Link to item Cite

Iron deficiency in young Lebanese children: association with elevated blood lead levels.

Journal Article J Pediatr Hematol Oncol · May 2008 Featured Publication OBJECTIVE: To measure the prevalence of transferrin saturation (TS) <12%, and iron-deficiency anemia (IDA) in Lebanese children, and their association with dietary habits, sociodemographic characteristics, and blood lead levels. PROCEDURE: A cross-sectiona ... Full text Link to item Cite

Cerebral sinus thrombosis in a patient with humoral immunodeficiency on intravenous immunoglobulin therapy: a case report.

Journal Article Neuropediatrics · April 2008 Featured Publication We present the case of an 11-year-old boy with humoral immunodeficiency on monthly intravenous immunoglobulins (IVIG) infusions, evaluated for recurrent, brief, neurological deficits secondary to cerebral sinus thrombosis without any identifiable hypercoag ... Full text Link to item Cite

Ubiquitylated Tax targets and binds the IKK signalosome at the centrosome.

Journal Article Oncogene · March 13, 2008 Constitutive activation of the NF-kappaB pathway by the Tax oncoprotein plays a crucial role in the proliferation and transformation of HTLV-I infected T lymphocytes. We have previously shown that Tax ubiquitylation on C-terminal lysines is critical for bi ... Full text Link to item Cite

Response of infantile spasms to levetiracetam.

Journal Article Neurology · February 12, 2008 Featured Publication Full text Link to item Cite

Gap junctional intercellular communication in hypoxia-ischemia-induced neuronal injury.

Journal Article Prog Neurobiol · January 2008 Featured Publication Brain hypoxia-ischemia is a relatively common and serious problem in neonates and in adults. Its consequences include long-term histological and behavioral changes and reduction in seizure threshold. Gap junction intercellular communication is pivotal in t ... Full text Link to item Cite

Marked benefits in physical activity and well-being, but not in functioning domains, 2 years after successful epilepsy surgery in children.

Journal Article Epilepsy Behav · January 2008 Featured Publication In this first study comparing epilepsy-specific quality-of-life measures of children after epilepsy surgery (2.4 years after focal resection) with those of a matched comparison group of nonoperated patients, seizure severity, medication side effects, overa ... Full text Link to item Cite

D-bifunctional protein deficiency, a novel mutation

Journal Article Journal of Pediatric Neurology · January 1, 2008 Deficiency of D-bifunctional protein causes a severe, Zellweger-like phenotype. Different mutations were found in humans causing the total or partial loss of this enzyme's function. We report a family with severe Zellweger-like syndrome with a typical pres ... Full text Cite

Expanding spectrum of paroxysmal events in children: potential mimickers of epilepsy.

Journal Article Pediatr Neurol · November 2007 Featured Publication Paroxysmal events in children can mimic epileptic seizures, and many of them have only been recently described, or are only now being increasingly recognized. An awareness of the different mimickers of epilepsy and the art of history-taking will help pedia ... Full text Link to item Cite

High-performance liquid chromatography method for quantifying sphingomyelin in rat brain.

Journal Article J Chromatogr B Analyt Technol Biomed Life Sci · November 1, 2007 Featured Publication A rapid, reproducible and accurate high-performance liquid chromatographic (HPLC) method for the quantitative determination of sphingomyelin in rat brain was developed and validated using normal-phase silica gel column, acetonitrile-methanol-water (65:18:1 ... Full text Link to item Cite

Functional recovery following resection of an epileptogenic focus in the motor hand area.

Journal Article Epilepsy Behav · November 2007 Featured Publication Despite recent technical advances, the surgical management of epileptic foci in the primary motor area, especially the motor hand area, continues to represent a significant challenge because of the risk of permanent neurological deficit. We describe the ca ... Full text Link to item Cite

Risk factors for development of subclinical hypothyroidism during valproic acid therapy.

Journal Article J Pediatr · August 2007 Featured Publication OBJECTIVE: To identify risk factors for subclinical hypothyroidism (SCH) (thyroid-stimulating hormone levels >5 mIU/mL) in patients receiving valproate (VPA) therapy. STUDY DESIGN: During a period of 2 years, consecutive patients with epilepsy receiving VP ... Full text Link to item Cite

Importance of voltage-dependent inactivation in N-type calcium channel regulation by G-proteins.

Journal Article Pflugers Arch · April 2007 Featured Publication Direct regulation of N-type calcium channels by G-proteins is essential to control neuronal excitability and neurotransmitter release. Binding of the G(betagamma) dimer directly onto the channel is characterized by a marked current inhibition ("ON" effect) ... Full text Link to item Cite

Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Journal Article Neurology · March 27, 2007 Featured Publication Lafora disease (LD) can be diagnosed by skin biopsy, but this approach has both false negatives and false positives. Biopsies of other organs can also be diagnostic but are more invasive. Genetic diagnosis is also possible but can be inconclusive, for exam ... Full text Link to item Cite

Venous sinus thrombosis in a renal transplant patient.

Journal Article Transplantation · March 27, 2007 Featured Publication Full text Link to item Cite

A patient with duplication (7)(p22.1pter) characterized by array-CGH.

Journal Article Am J Med Genet A · January 15, 2007 Featured Publication Approximately 40 patients with terminal duplication of the distal short arm of chromosome 7 have been reported, the smallest being dup(7)(p21). We report here on a patient with a smaller duplication, dup(7)(p22.1), detected on G-banding and characterized b ... Full text Link to item Cite

Effects of a single dose of erythropoietin on subsequent seizure susceptibility in rats exposed to acute hypoxia at P10.

Journal Article Epilepsia · January 2007 Featured Publication PURPOSE: To determine if posthypoxia treatment with erythropoietin (EPO) has protective effects against subsequent susceptibility to seizure related neuronal injury in rat pups subjected to acute hypoxia at P10. METHODS: Four groups of rats were manipulate ... Full text Link to item Cite

Brain malformation and infantile spasms in a SCAD deficiency patient.

Journal Article Pediatr Neurol · January 2007 Featured Publication This report presents a case of short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency with a previously unreported presentation with brain malformations and infantile spasms. This female infant developed repeated tonic clonic seizures at the age of 3(1 ... Full text Link to item Cite

Two randomized vitamin D trials in ambulatory patients on anticonvulsants: impact on bone.

Journal Article Neurology · December 12, 2006 Featured Publication OBJECTIVE: To investigate the effects of two doses of vitamin D given over 1 year on bone density in ambulatory patients on long-term antiepileptic drug (AED) therapy. METHODS: We conducted two parallel, randomized, controlled trials in 72 adults (18 to 54 ... Full text Link to item Cite

Benign pediatric localization-related epilepsies.

Journal Article Epileptic Disord · December 2006 Featured Publication By definition, benign epilepsy syndromes occur in patients with no significant prenatal, perinatal, or postnatal complications, normal psychomotor development and negative laboratory and neuroimaging work-up, respond well to therapy, and remit without sequ ... Link to item Cite

Benign pediatric localization-related epilepsies: Part II. Syndromes in childhood

Journal Article Epileptic Disorders · December 1, 2006 By definition, benign epilepsy syndromes occur in patients with no significant prenatal, perinatal, or postnatal complications, normal psychomotor development and negative laboratory and neuroimaging work-up, respond well to therapy, and remit without sequ ... Full text Cite

Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.

Journal Article J Child Neurol · November 2006 Featured Publication We report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alop ... Full text Link to item Cite

Benign pediatric localization-related epilepsies. Part I. Syndromes in infancy.

Journal Article Epileptic Disord · September 2006 Featured Publication There is currently increasing interest in identifying and classifying pediatric benign epilepsy syndromes and recently several new syndromes have been recognized. Benign epilepsy syndromes, by definition, occur in children with normal developmental history ... Link to item Cite

Exacerbation of vocal tics after temporal lobectomy.

Journal Article Epilepsy Behav · August 2006 Featured Publication We describe a woman with intractable temporal lobe epilepsy secondary to dysgenesis of the left temporal lobe who had a marked and long-term exacerbation of her preexisting vocal tics after a temporal lobectomy that completely controlled her seizures. The ... Full text Link to item Cite

Normalization of quality of life three years after temporal lobectomy: a controlled study.

Journal Article Epilepsia · May 2006 Featured Publication PURPOSE: The goal of epilepsy surgery is not merely to control previously intractable seizures, but also to improve quality of life (QOL). Our goals were to assess, in our Middle Eastern population, the QOL of adults with temporal lobe epilepsy (TLE) 3 yea ... Full text Link to item Cite

Alternating ibuprofen and acetaminophen in the treatment of febrile children: a pilot study [ISRCTN30487061].

Journal Article BMC Med · March 4, 2006 Featured Publication BACKGROUND: Alternating ibuprofen and acetaminophen for the treatment of febrile children is a prevalent practice among physicians and parents, despite the lack of evidence on effectiveness or safety. This randomized, double-blind and placebo-controlled cl ... Full text Link to item Cite

Cell penetration properties of maurocalcine, a natural venom peptide active on the intracellular ryanodine receptor.

Journal Article Biochim Biophys Acta · March 2006 Featured Publication Maurocalcine (MCa) is a 33-amino acid residue peptide toxin initially isolated from the scorpion Scorpio maurus maurus. Its structural and functional features make it resembling many Cell Penetrating Peptides. In particular, MCa exhibits a characteristic p ... Full text Link to item Cite

Lebanon [1]

Journal Article Practical Neurology · February 1, 2006 Full text Cite

Refractory calculation-induced idiopathic generalized epilepsy: A case report and review of the literature

Journal Article CNS Spectrums · February 1, 2006 This report reviews a case of calculation-induced idiopathic generalized epilepsy (IGE) that, unlike most patients with IGE, was refractory to medications. This patient had a family history of a similar condition in a relative of hers who did not have iden ... Cite

Effects of magnesium sulfate in kainic acid-induced status epilepticus.

Journal Article J Med Liban · 2006 Featured Publication Because magnesium has antiseizure effects in some animal models of epilepsy, and possible neuroprotective effects in some models of neuronal injury, we aimed to investigate its effects in the kainic acid (KA) model of status epilepticus (SE) in prepubescen ... Link to item Cite

Pilocarpine seizures cause age-dependent impairment in auditory location discrimination.

Journal Article J Exp Anal Behav · November 2005 Featured Publication Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unkn ... Full text Link to item Cite

Management of acute stroke in the pediatric age group

Journal Article Practical Neurology · October 1, 2005 Full text Cite

Equal antipyretic effectiveness of oral and rectal acetaminophen: a randomized controlled trial [ISRCTN11886401].

Journal Article BMC Pediatr · September 6, 2005 Featured Publication BACKGROUND: The antipyretic effectiveness of rectal versus oral acetaminophen is not well established. This study is designed to compare the antipyretic effectiveness of two rectal acetaminophen doses (15 mg/kg) and (35 mg/kg), to the standard oral dose of ... Full text Link to item Cite

Topiramate monotherapy as broad-spectrum antiepileptic drug in a naturalistic clinical setting.

Journal Article Seizure · September 2005 Topiramate was assessed in an open-label trial as broad-spectrum antiepileptic monotherapy, independently from the epilepsy type or syndrome. Adults and children aged 2 years and older, who were diagnosed with epilepsy within the last 5 years, treatment-na ... Full text Link to item Cite

Predictors of bone mineral density in patients on antiepileptic drugs.

Conference JOURNAL OF BONE AND MINERAL RESEARCH · September 1, 2005 Link to item Cite

Long-term effects of acute and of chronic hypoxia on behavior and on hippocampal histology in the developing brain.

Journal Article Brain Res Dev Brain Res · June 9, 2005 Featured Publication Ten-day-old rat pups (P10) subjected to acute hypoxia (down to 4% O2) had as adults increased aggression (handling test), memory impairment (water maze test), and decreased CA1 cell counts. Pups subjected to chronic hypoxia (10% O2 from P0 to P21) had incr ... Full text Link to item Cite

Facial nerve palsy with acute otitis media during the first 2 weeks of life.

Journal Article J Child Neurol · May 2005 Featured Publication A full-term male newborn presented to us at the age of 2 weeks with left facial weakness that had started at the age of 4 days and steadily progressed over a 10-day period. Physical examination revealed a complete unilateral left peripheral facial nerve pa ... Full text Link to item Cite

Pattern-induced partial seizures with repetitive affectionate kissing: an unusual manifestation of right temporal lobe epilepsy.

Journal Article Epilepsy Behav · May 2005 Featured Publication We report a case of recurrent partial seizures that were often precipitated by looking up a flight of stairs and included spitting as well as repetitive affectionate kissing automatisms. These seizures were shown by long-term video/EEG monitoring to be of ... Full text Link to item Cite

Management of Landau-Kleffner syndrome.

Journal Article Paediatr Drugs · 2005 Featured Publication Landau-Kleffner syndrome (LKS) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, beh ... Full text Link to item Cite

Refractory calculation-induced idiopathic generalized epilepsy: a case report and review of the literature.

Journal Article Epilepsia · 2005 Featured Publication We report a case with calculation-induced idiopathic generalized epilepsy (IGE) that, unlike most patients with IGE, was refractory to medications. This patient had a family history of (1) a similar condition in a relative of hers who, however, did not hav ... Full text Link to item Cite

Febrile seizures. From molecular biology to clinical practice.

Journal Article Neurosciences (Riyadh) · January 2005 Featured Publication Febrile seizures occur between the age of 3 months and 5 years with a temperature of 38 degrees C or higher, and are either simple or complex. Eight gene loci have been identified to be associated with certain cases of autosomal dominant familial febrile s ... Link to item Cite

Seizure-related programmed cell death

Conference EPILEPSIA · January 1, 2005 Link to item Cite

Effects of creatine and cyclocreatine supplementation on kainate induced injury in pre-pubescent rats.

Journal Article Brain Inj · December 2004 Featured Publication PURPOSE: To investigate if energy precursor supplementation is neuroprotective in two neuroexcitotoxicity models; the kainate and the kainate followed by chronic phenobarbital models. METHODS: Rats in experiment 1 received 1% creatine or cyclocreatine chow ... Full text Link to item Cite

Effects of nimodipine on the behavioral sequalae of experimental status epilepticus in prepubescent rats.

Journal Article Epilepsy Behav · April 2004 Featured Publication OBJECTIVE: The goal of this study was to investigate the potential protective effects of nimodipine (ND), a calcium channel blocker, on the acute manifestations and long-term behavioral sequalae of experimental status epilepticus (SE). METHODS: Three group ... Full text Link to item Cite

Effects of epilepsy surgery on quality of life: a controlled study in a Middle Eastern population.

Journal Article Epilepsy Behav · February 2004 Featured Publication The purpose of this study was to investigate which areas of quality of life (QOL) change after epilepsy surgery and generate QOL data specific to the Lebanese population. The QOL of 20 consecutive patients 1 year after surgery was compared (using the ESI-5 ... Full text Link to item Cite

Localized morphea: a rare adverse effect of valproic acid.

Journal Article Pediatr Neurol · September 2003 Featured Publication Morphea, a specific type of cutaneous sclerosis, is known in the pediatric age group, but not as an adverse effect to the antiepileptic valproic acid. We report a 14-year-old male patient with absence seizures who, after treatment with valproic acid, devel ... Full text Link to item Cite

Blood lead concentrations in 1-3 year old Lebanese children: a cross-sectional study.

Journal Article Environ Health · April 15, 2003 Featured Publication BACKGROUND: Childhood lead poisoning has not made the list of national public health priorities in Lebanon. This study aims at identifying the prevalence and risk factors for elevated blood lead concentrations (B-Pb >or= 100 microg/L) among 1-3 year old ch ... Full text Link to item Cite

Contamination of rural surface and ground water by endosulfan in farming areas of the Western Cape, South Africa.

Journal Article Environ Health · March 10, 2003 BACKGROUND: In South Africa there is little data on environmental pollution of rural water sources by agrochemicals. METHODS: This study investigated pesticide contamination of ground and surface water in three intensive agricultural areas in the Western C ... Full text Link to item Cite

Hippocampal programmed cell death after status epilepticus: evidence for NMDA-receptor and ceramide-mediated mechanisms.

Journal Article Epilepsia · March 2003 Featured Publication PURPOSE: Status epilepticus (SE) can result in acute neuronal injury with subsequent long-term age-dependent behavioral and histologic sequelae. To investigate potential mechanisms that may underlie SE-related neuronal injury, we studied the occurrence of ... Full text Link to item Cite

Stages of status epilepticus in the developing brain.

Journal Article Epilepsy Res · 2003 Featured Publication BACKGROUND: Adult rats undergo five distinct electrographic stages during status epilepticus (SE). Whether developing animals manifest those stages is not yet known. GOALS: Determine in the kainic acid (KA) model: (1) the EEG stages of SE in P15 and P35 ra ... Full text Link to item Cite

Symptomatic antiepileptic drug associated vitamin D deficiency in noninstitutionalized patients: an under-diagnosed disorder.

Journal Article J Med Liban · 2003 Featured Publication Four noninstitutionalized patients, 4 months - 51 years old, presented out of 421 patients with epilepsy seen within a period of 2 years with serious symptoms of vitamin D deficiency secondary to chronic antiepileptic drug therapy. Presenting symptoms incl ... Link to item Cite

Febrile seizures in children

Journal Article Practical Neurology · January 1, 2003 Full text Cite

Lack of apoptosis in the hypoxic brain of a rat model mimicking cyanotic heart disease.

Journal Article Brain Inj · October 2002 Featured Publication OBJECTIVE: To assess the effect of chronic hypoxia on brain neuronal apoptosis, an animal model mimicking cyanotic heart disease was utilized. METHODS: Rats were placed in an hypoxic environment at birth and oxygen levels were maintained at 10% in an air-t ... Full text Link to item Cite

Isolated digital gangrene complicating hepatitis a infection in a child.

Journal Article J Clin Rheumatol · August 2002 Featured Publication Hepatitis A virus is rarely associated with extrahepatic complications. A child presented with a history suggesting Raynaud's phenomenon and severe digital gangrene, as a complication of hepatitis A infection. Coagulation study results (protein C, protein ... Full text Link to item Cite

Efficacy, tolerability, and kinetics of lamotrigine in infants.

Journal Article J Pediatr · July 2002 Featured Publication OBJECTIVES: To investigate the efficacy, tolerability, and kinetics of lamotrigine during the first year of life. STUDY DESIGN: We studied 13 infants with intractable seizures; 7 had partial seizures and 7 had infantile spasms (1 had both). Patients receiv ... Full text Link to item Cite

Effect of antiepileptic drugs on bone density in ambulatory patients.

Journal Article Neurology · May 14, 2002 Featured Publication BACKGROUND: Long-term antiepileptic drug (AED) use causes multiple abnormalities in calcium and bone metabolism that have been most extensively described in institutionalized patients. The objective is to determine the effect of AED on vitamin D levels and ... Full text Link to item Cite

Efficacy of intravenous immunoglobulin in Landau-Kleffner syndrome.

Journal Article Pediatr Neurol · April 2002 Featured Publication We administered 2 gm/kg of intravenous gamma globulin (IVIG) to each of five consecutive patients with Landau-Kleffner syndrome, over 4 days. We compared the 1-month baseline to that following IVIG using a severity score assessing speech, comprehension, be ... Full text Link to item Cite

Medical treatment of patients with infantile spasms.

Journal Article Clin Neuropharmacol · 2002 Featured Publication Infantile spasms are the main feature in West syndrome, an age-related epilepsy syndrome that affects 1 in every 2,000-4,000 infants. The authors provide a comprehensive review of the literature about infantile spasms and their therapy. In the United State ... Full text Link to item Cite

Cerebral mycotic aneurysm in a child with Down's syndrome: a unique association.

Journal Article J Child Neurol · November 2001 Featured Publication Mycotic aneurysms are rare complications in patients with infective endocarditis, particularly in the pediatric population. We report a case of mycotic aneurysm of the middle cerebral artery complicating bacterial endocarditis in a child with Down's syndro ... Full text Link to item Cite

Time sequence and types of memory deficits after experimental status epilepticus.

Journal Article Epilepsy Res · February 2001 Featured Publication P35 rats subjected to kainate induced status epilepticus (SE) subsequently underwent four consecutive series of the Morris Water Maze. They demonstrated, compared with controls, an early (P46-49), and subsequent (P60-63) disturbance in acquisition, but not ... Full text Link to item Cite

Anticonvulsant action and long-term effects of gabapentin in the immature brain.

Journal Article Neuropharmacology · 2001 Featured Publication The anticonvulsant action and the long-term effects on learning, memory and behavior of the new generation antiepileptic drug gabapentin (GBP) were investigated in immature animals. Kainic acid (KA) was administered to rats on postnatal day (P) 35. Animals ... Full text Link to item Cite

Isolated adipic aciduria.

Journal Article Pediatr Neurol · January 2001 Featured Publication Adipic acid can appear, in combination with other dicarboxylic acids, in the urine of patients in a number of underlying metabolic diseases. A child with seizures and mental retardation of unknown etiology who was found to have elevated isolated adipic aci ... Full text Link to item Cite

Classification of epilepsy syndromes and role of genetic factors.

Journal Article Pediatr Neurol · January 2001 Featured Publication In this report the types of epilepsy syndromes seen in children in a tertiary referral center in Beirut, Lebanon were studied and the importance of consanguinity and family history in the occurrence of these syndromes was investigated. Records of 230 pedia ... Full text Link to item Cite

Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

Journal Article Pediatr Neurol · August 2000 Featured Publication We present our analysis of 44 patients with alternating hemiplegia of childhood. The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor ... Full text Link to item Cite

Successful use of intravenous immunoglobulin as initial monotherapy in Landau-Kleffner syndrome.

Journal Article Epilepsia · July 2000 Featured Publication PURPOSE: There is a need for new and more effective therapies for Landau-Kleffner syndrome. In this article we present the first case in which a patient with Landau-Kleffner syndrome was given intravenous immunoglobulin (IVIG) as his first and only therapy ... Full text Link to item Cite

Fatality from hepatitis A in a child taking valproate.

Journal Article J Child Neurol · February 2000 Featured Publication We report an 8-year-old boy with complex partial seizures due to congenital stroke, treated with valproate for more than 3 years (the last 2 years were on monotherapy) with no complications during that period except for transient thrombocytopenia. His sist ... Full text Link to item Cite

Rheumatic fever in children: a 15-year experience in a developing country.

Journal Article Pediatr Cardiol · 2000 Featured Publication Clinical data from 91 patients with rheumatic fever (RF), who were hospitalized at a tertiary hospital in Lebanon between 1980 and 1995, were reviewed retrospectively. Age on hospitalization was 11.1+/-2.9 years (mean +/- SD, range 3-17 years). Nineteen pa ... Full text Link to item Cite

Potential hepatotoxicity of lamotrigine.

Journal Article Pediatr Neurol · January 2000 Featured Publication Lamotrigine is a new antiepileptic drug that is effective for a broad range of seizures in adults and children. Three children with seizures of different causes who were treated with lamotrigine and developed reversible hepatotoxicity are reported. In one ... Full text Link to item Cite

Unusual presentation of Kearns-Sayre syndrome in early childhood.

Journal Article Pediatr Neurol · November 1999 Featured Publication Congenital glaucoma and insulin-dependent diabetes mellitus were the predominant presenting signs in a patient with Kearns-Sayre syndrome. Thereafter, he developed short stature, pigmentary retinopathy, progressive external ophthalmoplegia, and ataxia. The ... Full text Link to item Cite

Alternating hemiplegia of childhood.

Journal Article Pediatr Neurol · October 1999 Featured Publication Full text Link to item Cite

Consequences of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor blockade during status epilepticus in the developing brain.

Journal Article Brain Res Dev Brain Res · March 12, 1999 Featured Publication To investigate if AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptor activation contributes to acute manifestations and long term consequences of status epilepticus (SE), we administered the AMPA receptor antagonist NBQX to P35 rats u ... Full text Link to item Cite

Adrenoleukodystrophy associated with vitiligo and ulcerative colitis.

Journal Article Eur Neurol · 1999 Featured Publication Adrenoleukodystrophy (ALD) is an X-linked inherited disorder of lipid metabolism usually presenting in childhood or early adolescence. It is a progressive disease with symptoms of adrenal insufficiency and central nervous system demyelination. The patholog ... Full text Link to item Cite

Transient hypertrophic cardiomyopathy in the newborn following multiple doses of antenatal corticosteroids.

Journal Article Am J Perinatol · 1999 Featured Publication Postnatal exposure to steroids has been associated with hypertrophic cardiomyopathy (HCM) in the newborn. Such an effect has not been described in infants born to mothers who received antenatal steroids. We report three newborns whose mothers were treated ... Full text Link to item Cite

Gabapentin in the treatment of refractory partial epilepsy in children with intellectual disability.

Journal Article J Intellect Disabil Res · December 1998 Featured Publication Twenty-six children with intellectual disability and six normal children, all suffering from refractory partial seizures, received open-label gabapentin (range = 10-50 mg kg(-1) day(-1); mean = 26.7 mg kg(-1) day(-1) as an add-on medication to their antiep ... Link to item Cite

IVIG in Landau-Kleffner syndrome.

Journal Article Pediatr Neurol · November 1998 Featured Publication Link to item Cite

Electroencephalographic discharges of temporal lobe seizures in children and young adults.

Journal Article Electroencephalogr Clin Neurophysiol · November 1998 Featured Publication We investigated the discharge morphology and propagation patterns of electroencephalographic seizures of temporal lobe onset in 21 children and young adults who underwent invasive long-term EEG monitoring (LTM). Of those, 15 subsequently underwent anterior ... Full text Link to item Cite

Alternating hemiplegia of childhood: Laboratory investigation

Journal Article ANNALS OF NEUROLOGY · September 1, 1998 Link to item Cite

Comparison of valproate and phenobarbital treatment after status epilepticus in rats.

Journal Article Neurology · July 1998 Featured Publication OBJECTIVE: To investigate the long-term effects of two widely used antiepileptic medications, valproate and phenobarbital, on learning and behavior in the kainic acid (KA) model of epilepsy. BACKGROUND: Prior clinical and animal studies have demonstrated t ... Full text Link to item Cite

Early onset neonatal spontaneous pneumopericardium.

Journal Article J Med Liban · 1998 Featured Publication Neonatal pneumopericardium is a rare clinical condition which usually occurs in association with other air leaks, especially when there is severe lung pathology, post vigorous resuscitation, or in presence of assisted ventilation. We report the first case ... Link to item Cite

IVIG in Landau-Kleffner syndrome [2] (multiple letters)

Journal Article Pediatric Neurology · January 1, 1998 Cite

Lamotrigine in absence and primary generalized epilepsies.

Journal Article J Child Neurol · November 1997 Featured Publication Although lamotrigine has been approved in the United States as adjunctive therapy for partial seizures in patients older than 12 years, there is increasing evidence that it is just as effective, if not more effective, in the treatment of generalized seizur ... Full text Link to item Cite

Landau-Kleffner syndrome: consistent response to repeated intravenous gamma-globulin doses: a case report.

Journal Article Epilepsia · April 1997 Featured Publication PURPOSE: Although several treatments have been tried for Landau-Kleffner syndrome (LKS) too many patients are refractory to known therapies. We report an 8-year-old girl who failed other therapies but who had a consistent response after treatment with intr ... Full text Link to item Cite

Focal features in West syndrome indicating candidacy for surgery.

Journal Article Pediatr Neurol · April 1997 Featured Publication A subgroup of patients with West syndrome (WS) also have focal features, and some of these patients respond to surgical intervention. To determine the incidence of focal features in patients with WS and to establish the correlation of these features with o ... Full text Link to item Cite

Acute effects of MK801 on kainic acid-induced seizures in neonatal rats.

Journal Article Epilepsy Res · January 1997 Featured Publication Kainic acid (KA) causes behavioral and electrographic status epilepticus (SE) in rats of all ages. In adult rats, the noncompetitive N-methyl-D-aspartate (NMDA) channel blocker MK801 ((+)-5-methyl-10,11-dihydro-5H-dibenzo[a,d]-cyclohepten-5,10-imine ) is a ... Full text Link to item Cite

Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia.

Journal Article Eur Arch Psychiatry Clin Neurosci · 1997 Featured Publication The acute pathophysiologic changes during hemiplegic spells and the long-term outcome of alternating hemiplegia remain obscure. In a 41-year-old male with familial alternating hemiplegia we found an increase in right frontal cerebral blood flow 3 h into a ... Full text Link to item Cite

Hypsarrhythmia: frequency of variant patterns and correlation with etiology and outcome.

Journal Article Neurology · January 1997 Featured Publication To determine the frequency and significance of the EEG features of hypsarrhythmia, we analyzed the pre-ACTH records of 53 consecutive patients with infantile spasms for the severity of the following abnormalities: disorganization of background, slowing, hi ... Full text Link to item Cite

Treatment-refractory epilepsy: An overview of treatment options and costs

Journal Article Disease Management and Health Outcomes · January 1, 1997 The costs of epilepsy, one of the most common neurological diseases, affect society as a whole as well as patients themselves. Approximately 15% of patients with epilepsy are considered to have difficult-to-treat or treatment-refractory epilepsy, and their ... Full text Cite

Long-term effects of excitatory amino acid antagonists NBQX and MK-801 on the developing brain.

Journal Article Brain Res Dev Brain Res · September 2, 1996 Featured Publication Because of the critical role of excitatory amino acids (EAAs) in epileptogenesis and seizure-induced brain damage, EAA antagonists are now being considered as a possible therapy for seizures. However, during development EAAs play a pivotal role in learning ... Full text Link to item Cite

Pharyngeal dysesthesia as an aura in temporal lobe epilepsy.

Journal Article Epilepsia · September 1996 Featured Publication PURPOSE: Because oral, buccal, and sometimes oral-pharyngeal manifestations in epilepsy are linked to the central-temporal region, we studied 3 patients with childhood-onset partial seizures that consistently began with pharyngeal dysesthesias, described a ... Full text Link to item Cite

Efficacy of gabapentin therapy in children with refractory partial seizures.

Journal Article J Pediatr · June 1996 Featured Publication Thirty-two children with refractory partial epilepsy received open-label gabapentin as an additional medication to their antiepileptic drug regimen. Gabapentin was given in a dose ranging from 10 to 50 mg/kg per day (mean dose, 26.7 mg/kg daily). All patie ... Full text Link to item Cite

Differential diagnosis of staring spells in children: a video-EEG study.

Journal Article Pediatr Neurol · April 1996 Featured Publication Staring is frequently a nonepileptic manifestation in children. To differentiate epileptic versus nonepileptic staring, we reviewed clinical and video-EEG findings in 143 patients, aged 5 months to 43 years, monitored for staring episodes. In 79 patients s ... Full text Link to item Cite

Behavioral side effects of gabapentin in children.

Journal Article Epilepsia · January 1996 Featured Publication We report 7 children who received gabapentin (GBP) as adjunctive medic ation and subsequently developed behavioral side effects. These behavioral changes consisted of intensification of baseline behaviors as well as new behavioral problems. Behaviors that ... Full text Link to item Cite

Effect of kainic acid-induced status epilepticus on inositol-trisphosphate and seizure-induced brain damage in mature and immature animals.

Journal Article Brain Res Dev Brain Res · October 27, 1995 Featured Publication We investigated the role of excitatory amino acids in the activation of the phosphoinositide pathway during kainic acid-induced seizures in mature and immature animals. Kainic acid caused more severe seizures in the immature animals, but no hippocampal dam ... Full text Link to item Cite

The preoperative evaluation of the child with epilepsy.

Journal Article Neurosurg Clin N Am · July 1995 Featured Publication This article reviews the preoperative evaluation of the child with intractable epilepsy. The importance of the history and the clinical manifestations of the seizures, and the results of electrophysiology, neurophysiology, and neuroimaging studies are disc ... Link to item Cite

Pseudoseizure manifestations in two preschool age children.

Journal Article Seizure · June 1995 Featured Publication We report two patients with epilepsy with pseudoseizures at age 6 years. Both presented with intractable staring spells. Pseudoseizures were provoked and aborted by suggestion, leading to the diagnosis. In both patients, evidence of a neuropsychological di ... Full text Link to item Cite

EEG prior to hemispherectomy: correlation with outcome and pathology.

Journal Article Electroencephalogr Clin Neurophysiol · April 1995 Featured Publication Hemispherectomy, for the treatment of seizures, is highly successful but has a significant morbidity rate. The procedure is usually restricted to patients with an intractable seizure disorder and hemiparesis. Because of the inherent risk of surgery, patien ... Full text Link to item Cite

HPLC measurement, blood distribution, and pharmacokinetics of oral clotrimazole, potentially useful antisickling agent.

Journal Article Clin Chem · March 1995 Featured Publication Clotrimazole (CLT) has recently been shown to be a potent and specific inhibitor of the Ca(2+)-activated K+ channel and to thereby prevent K+ loss and cellular dehydration of sickled erythrocytes. This evidence suggests that oral CLT may be a useful new th ... Link to item Cite

Use of subdural grids and strip electrodes to identify a seizure focus in children

Journal Article Pediatric Neurosurgery · January 1, 1995 For patients with intractable seizures, the best surgical outcome is achieved following precise localization of the seizure focus. Scalp EEG monitoring may be: insufficient and chronic subdural invasive EEG monitoring has therefore been advocated. At Child ... Cite

Correlation of 99mTc-HMPAO SPECT with EEG monitoring: prognostic value for outcome of epilepsy surgery in children.

Journal Article Brain Dev · 1995 Featured Publication Sixteen children who had focal cortical resections for medically intractable epilepsy were preoperatively evaluated with 99mtechnetium-labelled hexamethylpropyleneamineoxime single photon emission computed tomography (99mTc-HMPAO SPECT). Video-EEG monitori ... Full text Link to item Cite

Mesial temporal sclerosis: pathogenesis and significance.

Journal Article Pediatr Neurol · January 1995 Featured Publication Mesial temporal sclerosis (MTS) is a common pathologic finding in patients with temporal lobe epilepsy. Rarely MTS can be detected in children during the first decade of life, but is not commonly found until adolescence. Although the etiology of MTS remain ... Full text Link to item Cite

Psychogenic seizures: video telemetry observations in 27 patients.

Journal Article Pediatr Neurol · January 1995 Featured Publication Psychogenic seizures are unusual during the first decade of life. To compare the clinical features of psychogenic seizures in young children with those of teenagers, the long-term electroencephalographic and video monitoring studies of all patients younger ... Full text Link to item Cite

Use of subdural grids and strip electrodes to identify a seizure focus in children.

Journal Article Pediatr Neurosurg · 1995 Featured Publication For patients with intractable seizures, the best surgical outcome is achieved following precise localization of the seizure focus. Scalp EEG monitoring may be insufficient and chronic subdural invasive EEG monitoring has therefore been advocated. At Childr ... Full text Link to item Cite

Long-term behavioral deficits following pilocarpine seizures in immature rats.

Journal Article Epilepsy Res · December 1994 Featured Publication The effect of seizures on subsequent long-term behavior was studied in immature rats. A similar severity of seizures were induced in 20-day old rats (P20) and 45-day old rats (P45) by intraperitoneal injections of pilocarpine at doses of 200 mg/kg and 380 ... Full text Link to item Cite

Technetium-99m HmPAO brain SPECT and outcome of hemispherectomy for intractable seizures.

Journal Article Pediatr Neurol · October 1994 Featured Publication With recent descriptions of the modified hemispherectomies and hemicorticectomy, there has been renewed interest in hemispherectomy for treatment of intractable seizures with hemiparesis. Because long-term outcome remains uncertain, patient selection remai ... Full text Link to item Cite

Flunarizine for treatment of partial seizures: results of a concentration-controlled trial.

Journal Article Neurology · October 1994 Featured Publication The National Institutes of Health sponsored a randomized, double-blind, multicenter, placebo-controlled trial of flunarizine (FNR) in epileptic patients receiving concomitant phenytoin (PHT) or carbamazepine (CBZ). Because of FNR's long half-life (up to 7 ... Full text Link to item Cite

Efficacy of felbamate in therapy for partial epilepsy in children.

Journal Article J Pediatr · September 1994 Featured Publication Thirty children (2 to 17 years of age) with refractory partial seizures received open-label felbamate as an add-on medication to their background antiepileptic drugs. The dose was increased up to a maximum of 45 mg/kg. Compared with baseline seizure activi ... Full text Link to item Cite

Phenobarbital modifies seizure-related brain injury in the developing brain.

Journal Article Ann Neurol · September 1994 Featured Publication To investigate the potential role of drug therapy in preventing or exacerbating seizure-related brain injury in the prepubescent brain, we administered kainic acid to rats at postnatal day 35. Therapy with daily phenobarbital was started directly before or ... Full text Link to item Cite

PREOPERATIVE PREDICTORS OF OUTCOME FOR CORPUS CALLOSOTOMY

Journal Article ANNALS OF NEUROLOGY · September 1, 1994 Link to item Cite

ALTERNATING HEMIPLEGIA OF CHILDHOOD - CLINICAL MANIFESTATIONS

Journal Article ANNALS OF NEUROLOGY · September 1, 1994 Link to item Cite

OUTCOME OF TEMPORAL LOBECTOMY IN CHILDREN

Journal Article ANNALS OF NEUROLOGY · September 1, 1994 Link to item Cite

Measurement of felbamate by wide-bore capillary gas chromatography and flame ionization detection.

Journal Article Clin Chem · May 1994 Featured Publication Felbamate, a newly developed antiepileptic agent, has been demonstrated to control partial and generalized seizures effectively. We have developed a gas-chromatographic method for the determination of felbamate, using a wide-bore capillary column, a flame ... Link to item Cite

Quisqualic acid-induced seizures during development: a behavioral and EEG study.

Journal Article Epilepsia · 1994 Featured Publication Quisqualic acid (QA) is an excitatory amino acid analogue that binds to the glutamate ionotropic receptor subclass AMPA (alpha-amino-3 hydroxy-5 methyl-4 isoxazol propionic acid) and metabotropic receptor phospholipase C. To study its epileptogenic propert ... Full text Link to item Cite

Relationship of carbamazepine reduction rate to seizure frequency during inpatient telemetry.

Journal Article Epilepsia · 1994 Featured Publication To establish guidelines for medication reduction during inpatient telemetry, the records of 18 children and young adults with refractory partial seizures undergoing carbamazepine (CBZ) reductions during continuous video/EEG telemetry were reviewed. Six pat ... Full text Link to item Cite

Morbidity of depth and subdural electrodes: Children and adolescents versus young adults

Journal Article Journal of Epilepsy · January 1, 1994 Invasive EEG monitoring is used in the presurgical evaluation of children with intractable epilepsy. The morbidity of intracranial electrode monitoring was retrospectively evaluated in 56 children and adults; 16 patients had depth electrodes (DE), 30 had s ... Full text Cite

Compulsory spitting: An unusual manifestation of temporal lobe epilepsy

Journal Article Journal of Epilepsy · January 1, 1994 Spitting is a rare neurological complaint. Alimentary automatisms are a common part of temporal lobe epilepsy and usually manifest as chewing and swallowing. We report compulsory spitting as an ictal manifestation in three patients suspected of having temp ... Full text Cite

Effect of temperature on kainic acid-induced seizures.

Journal Article Brain Res · December 17, 1993 Featured Publication The effects of body temperature on kainic acid-induced seizures and seizure-related brain damage were examined in rats. In rats with status epilepticus induced by intraperitoneal injection of 12 mg/kg of kainic acid (KA), ictal discharges were decreased by ... Full text Link to item Cite

Placebo-controlled study of the efficacy and safety of lamotrigine in patients with partial seizures. U.S. Lamotrigine Protocol 0.5 Clinical Trial Group.

Journal Article Neurology · November 1993 We evaluated the efficacy and safety of lamotrigine (300 and 500 mg/day) as add-on therapy in a multicenter, randomized, double-blind, parallel-group, placebo-controlled study of 216 patients with refractory partial seizures. During 6 months of treatment, ... Full text Link to item Cite

Neuroprotective effect of chronic infusion of basic fibroblast growth factor on seizure-associated hippocampal damage.

Journal Article Brain Res · October 29, 1993 Featured Publication Basic fibroblast growth factor (bFGF) has been shown to have neuroprotective effects in animal models of ischemia. To determine whether bFGF is protective against seizure-induced brain damage, we administered bFGF through osmotic pumps prior to, and after ... Full text Link to item Cite

Effects of quisqualic acid and glutamate on subsequent learning, emotionality, and seizure susceptibility in the immature and mature animal.

Journal Article Brain Res · October 1, 1993 Featured Publication To compare the long-term behavioral effects of chronic administration of excitatory amino acids in the mature and immature brain quisqualic acid (QA) and glutamate (GLU) were administered intraventricularly by osmotic pumps over 7 days in 20- and 60-day-ol ... Full text Link to item Cite

Effects of kindling on subsequent learning, memory, behavior, and seizure susceptibility.

Journal Article Brain Res Dev Brain Res · May 21, 1993 Featured Publication To determine the long-term effects of seizures on the developing brain we kindled 20-, 40-, and 60-day-old rats to stage 5 seizures and then elicited an additional 15 seizures using the same kindling stimulation. At age 80 days, all animals that reached st ... Full text Link to item Cite

Facilitation of infantile spasms by partial seizures.

Journal Article Epilepsia · 1993 Featured Publication We report 16 patients with infantile spasms in whom onset of the clusters of spasms appeared to be triggered by close temporal association with partial seizures. Common features included the presence of focal cerebral lesions in 12 infants (3 were classifi ... Full text Link to item Cite

Neuroprotective effect of felbamate after kainic acid-induced status epilepticus.

Journal Article Epilepsia · 1993 Featured Publication Felbamate (FBM), a newly developed antiepileptic drug (AED), was previously shown to offer some neuroprotective effects against hypoxic injury in both in vivo and in vitro studies. We administered FBM (100 or 300 mg/kg) to 30-day-old rats 1 h after they re ... Full text Link to item Cite

Ipsiversive ictal eye and head deviation in a child with cerebral dysgenesis

Journal Article Journal of Epilepsy · January 1, 1993 Deviation of the head or eyes at the onset of a seizure usually suggests that the seizure focus is located in the contralateral hemisphere. We describe an infant with extensive cerebral dysgenesis in whom left frontal ictal discharges on EEG were consisten ... Full text Cite

The role of nitrazepam in intractable seizures in childhood

Journal Article Journal of Epilepsy · January 1, 1993 Thirty-one children (5 months to 19 years) with medically intractable childhood epilepsy had nitrazepam added to their antiepileptic drug (AED) regimen. All patients had previously received phenobarbital, phenytoin, carbamazepine, valproate, and at least o ... Full text Cite

A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

Journal Article Neurology · December 1992 Featured Publication We report the familial occurrence and apparent autosomal dominant inheritance of alternating hemiplegia of childhood. The proband, a 9-year-old boy, presented with developmental retardation, rare tonic-clonic seizures, and frequent episodes of flaccid alte ... Full text Link to item Cite

A nineteen-year-old man with altered mental status.

Journal Article J Clin Pharmacol · June 1992 Featured Publication Full text Link to item Cite

A 19-YEAR-OLD MAN WITH ALTERED MENTAL STATUS

Journal Article JOURNAL OF CLINICAL PHARMACOLOGY · June 1, 1992 Link to item Cite

Effect of high doses of intravenously administered immune globulin on natural killer cell activity in peripheral blood.

Journal Article J Pediatr · March 1992 Featured Publication Because Kawasaki disease is a disorder characterized by lymphocyte activation and immune complex destruction of endothelial cells, we examined the effect of administration of high doses of intravenously administered immune globulin (IVIG) on a lymphocyte p ... Full text Link to item Cite

Double-blind randomized study comparing brand-name and generic phenytoin monotherapy.

Journal Article Epilepsia · 1992 Featured Publication Ten patients with well-controlled seizures receiving chronic phenytoin (PHT) monotherapy for seizure prophylaxis completed a randomized double-blind crossover study comparing brand-name and generic PHT. Each patient received the same dose of each preparati ... Full text Link to item Cite

Delayed oculogyric crises associated with striatocapsular infarction.

Journal Article J Clin Neuroophthalmol · September 1991 Featured Publication Oculogyric crises are dystonic, usually upward, conjugate eye deviations. We describe an 11-year-old girl who developed oculogyric crises 3 1/2 years after infarction of the right caudate, putamen, and internal capsule. Her abnormal eye movements responded ... Link to item Cite

THE ROLE OF NITRAZEPAM IN INTRACTABLE SEIZURES

Journal Article ANNALS OF NEUROLOGY · September 1, 1991 Link to item Cite

Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up.

Journal Article Electroencephalogr Clin Neurophysiol · March 1991 Featured Publication The EEG features and clinical correlates were investigated before, directly after, and on long-term follow-up after initiation of pyridoxine therapy in 6 patients with B6-dependent epilepsy. At each phase, the EEG provided important diagnostic and prognost ... Full text Link to item Cite

The newer antiepileptic drugs: carbamazepine and valproic acid.

Journal Article Pediatr Ann · January 1991 Featured Publication Full text Link to item Cite

Temporal lobe epilepsy in children

Journal Article International Pediatrics · January 1, 1991 Complex partial seizures of temporal lobe origin are one of the most common, yet difficult to control seizures occurring in childhood. In this article, the clinical manifestations, differential diagnosis, evaluation, and treatment of children with this dis ... Cite

Neonatal herpes simplex meningoencephalitis: EEG investigations and clinical correlates.

Journal Article Neurology · September 1990 Featured Publication We studied the sequential EEGs of 15 neonatal herpes simplex virus meningoencephalitis (NHSV-ME) patients and correlated them with corresponding clinical and laboratory findings. During days 1 to 4 of the illness, 8 had EEGs. All but 1 had abnormal tracing ... Full text Link to item Cite

Approach to epilepsy in children.

Journal Article Indian J Pediatr · 1990 Featured Publication Full text Link to item Cite

Long-term tolerability, pharmacokinetic and preliminary efficacy study of lamotrigine in patients with resistant partial seizures.

Journal Article Clin Neuropharmacol · August 1989 Featured Publication Four adult men with resistant partial seizures underwent an intensive open-label protocol designed to evaluate long-term add-on lamotrigine (LTG) therapy. Following an 8-week baseline, LTG was added to their background medication(s) (carbamazepine in three ... Full text Link to item Cite

Time course of carbamazepine autoinduction. The VA Cooperative Study No.118 Group.

Journal Article Neurology · April 1989 Featured Publication We sequentially determined carbamazepine clearance values in 17 patients at the end of weeks 1, 2, 4, 8, and 12 of monotherapy. There were no significant differences among these clearance values. In 11 of 17 patients, week 1 clearance accurately predicted ... Full text Link to item Cite

Carbamazepine increases phenytoin serum concentration and reduces phenytoin clearance.

Journal Article Neurology · July 1988 Featured Publication Addition of carbamazepine to phenytoin monotherapy resulted in the following significant (p less than 0.05) changes: (1) increased mean phenytoin serum concentration; (2) decreased phenytoin clearance, due to decreased production of phenytoin dihydrodiol a ... Full text Link to item Cite

Phenobarbital does not alter phenytoin steady-state serum concentration or pharmacokinetics.

Journal Article Neurology · April 1988 Featured Publication Phenytoin pharmacokinetics and biotransformation were studied with stable isotope tracer techniques in six patients before and after addition of phenobarbital. No significant (p less than 0.05) changes in phenytoin serum concentration, clearance, eliminati ... Full text Link to item Cite

Comparative efficacy of antiepileptic drugs.

Journal Article Clin Neuropharmacol · April 1988 Featured Publication Full text Link to item Cite

Bilateral total corneal and conjunctival choristomas associated with epidermal nevus.

Journal Article Arch Ophthalmol · February 1986 Featured Publication A 4-year-old boy had been noted from birth to have bilateral masses obscuring the entire outer portion of the eyes. Systemic findings included mild growth retardation, multiple cortical lesions of the distal metaphyseal ends of the lower extremities, and d ... Full text Link to item Cite

Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.

Journal Article Am J Med Genet · November 1985 Featured Publication Four sibs, three males and one female, had microcephaly, hypergonadotropic hypogonadism, short stature, and multiple congenital anomalies. They had five normal sibs and consanguineous parents. Findings in the affected sibs also included a narrow forehead, ... Full text Link to item Cite

Hypoglycorrhachia in neonatal herpes simplex virus meningoencephalitis.

Journal Article J Pediatr · November 1985 Featured Publication Full text Link to item Cite

Childhood Guillain-Barré syndrome masquerading as a protracted pain syndrome.

Journal Article Arch Neurol · September 1985 Featured Publication Full text Link to item Cite

Familial spinocerebellar degeneration with corneal dystrophy.

Journal Article Am J Med Genet · February 1985 Featured Publication We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second ... Full text Link to item Cite

Protracted epileptiform encephalopathy: an unusual form of partial complex status epilepticus.

Journal Article Epilepsia · 1985 Featured Publication An 11-year-old previously healthy boy had an abrupt onset of partial complex, focal, multifocal, and generalized seizures, with interictal expressive aphasia, extreme emotional lability, agitation, and complex visual and auditory hallucinations. EEGs showe ... Full text Link to item Cite

Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.

Journal Article Helv Paediatr Acta · December 1984 Featured Publication We are describing two male siblings with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. These patients presented in the early neonatal period with micrognathia, low set ears, high ... Link to item Cite

Hypertension encephalopathy: rare complication after orthopedic manipulation.

Journal Article Am J Dis Child · December 1982 Featured Publication Full text Link to item Cite

Maple syrup urine disease with increased intracranial pressure.

Journal Article Am J Dis Child · July 1982 Featured Publication Full text Link to item Cite

Brief clinical report and review: the Marden-Walker syndrome.

Journal Article Am J Med Genet · March 1982 Featured Publication We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; f ... Full text Link to item Cite

The syndrome of hyperostosis and hyperphosphatemia.

Journal Article J Pediatr · December 1981 Featured Publication Six children, five girls and one boy, presented with recurrent episodes of swelling, pain, and tenderness of the long bones. On roentgenographic examination all had cortical hyperostosis of the affected areas. Serum phosphate concentration was persistently ... Full text Link to item Cite