Scholars@Duke
Sidney M. Gospe Jr.

Sidney M. Gospe Jr.

Adjunct Professor in the Department of Pediatrics
Pediatrics, Neurology
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Selected Publications

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal Article medRxiv · March 29, 2024 Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint con ... Full text Link to item Cite

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

Journal Article Annals of the Child Neurology Society · March 2023 AbstractPyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine. Research conducted over the last ... Full text Open Access Cite

Neonatal Seizures

Chapter · January 1, 2023 Seizures are a frequent neonatal emergency associated with a high degree of morbidity and mortality. Seizure is the presenting symptom of a wide range of underlying pathologies. Neonatologists should be comfortable with forming a differential diagnosis, ra ... Full text Cite

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Journal Article Neurology · December 5, 2022 BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies (LRTs) reduce the accumulation of p ... Full text Link to item Cite

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.

Journal Article Mol Genet Metab Rep · June 2022 BACKGROUND: Little is known about pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in adulthood, as the genetic basis of the disorder has only been elucidated 15 years ago. This creates a knowledge gap ... Full text Link to item Cite

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Journal Article Mol Genet Metab · April 2022 BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment. Adjunct lysine reduction the ... Full text Link to item Cite

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Journal Article J Clin Invest · August 2, 2021 BackgroundPyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants lead to deficiency of α-aminoadipic semialdehyde dehydrogenase/antiquitin, resultin ... Full text Link to item Cite

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Journal Article J Inherit Metab Dis · January 2021 Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was ... Full text Link to item Cite

Child Neurology Applicants Place Increasing Emphasis on Quality of Life Factors.

Journal Article Pediatr Neurol · January 2021 BACKGROUND: Medical education, residency training, and the structure of child neurology residency training programs are evolving. We sought to evaluate how training program selection priorities of child neurology residency applicants have changed over time ... Full text Open Access Link to item Cite

Disorders of pyridoxine metabolism

Chapter · January 1, 2020 Disorders of pyridoxine metabolism include pyridoxine-dependent epilepsy (PDE) due to antiquitin (ATQ) deficiency, PDE due to abnormalities in pyridoxal 5'-phosphate (PLP) homeostasis protein (PLPHP deficiency, a PLP-responsive epileptic encephalopathy due ... Full text Cite

Disorders of manganese transport

Chapter · January 1, 2020 Manganese transport across cell membranes is highly regulated to prevent toxic accumulation or deficiency. In recent years, three autosomal recessive disorders of manganese transport have been reported. Patients with pathogenic variants in SLC30A10 manifes ... Full text Cite

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Journal Article J Inherit Metab Dis · March 2019 Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay ... Full text Link to item Cite

Pediatric out-of-hospital cardiac arrest: Time to goal target temperature and outcomes.

Journal Article Resuscitation · February 2019 AIM: Although recent out-of-hospital cardiac arrest (CA) trials found no benefits of hypothermia versus normothermia targeted temperature management, preclinical models suggest earlier timing of hypothermia improves neuroprotective efficacy. This study inv ... Full text Link to item Cite

Telemedicine and Child Neurology.

Journal Article J Child Neurol · January 2019 Over the past 2 decades, various telehealth technologies, in particular synchronous video teleconferencing between provider and patient, have been incorporated into the practice of neurology. The practice of child neurology is now starting to take advantag ... Full text Link to item Cite

Pyridoxine-Dependent Epilepsy

Chapter · January 1, 2019 Full text Cite

Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.

Journal Article Neurology · July 3, 2018 OBJECTIVE: To evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE). METHODS: Measurements were conducted through landmark-based geometric morphometrics applied on cerebral MRIs of pat ... Full text Link to item Cite

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal Article medRxiv · March 29, 2024 Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint con ... Full text Link to item Cite

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

Journal Article Annals of the Child Neurology Society · March 2023 AbstractPyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine. Research conducted over the last ... Full text Open Access Cite

Neonatal Seizures

Chapter · January 1, 2023 Seizures are a frequent neonatal emergency associated with a high degree of morbidity and mortality. Seizure is the presenting symptom of a wide range of underlying pathologies. Neonatologists should be comfortable with forming a differential diagnosis, ra ... Full text Cite

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Journal Article Neurology · December 5, 2022 BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies (LRTs) reduce the accumulation of p ... Full text Link to item Cite

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.

Journal Article Mol Genet Metab Rep · June 2022 BACKGROUND: Little is known about pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in adulthood, as the genetic basis of the disorder has only been elucidated 15 years ago. This creates a knowledge gap ... Full text Link to item Cite

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Journal Article Mol Genet Metab · April 2022 BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment. Adjunct lysine reduction the ... Full text Link to item Cite

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Journal Article J Clin Invest · August 2, 2021 BackgroundPyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants lead to deficiency of α-aminoadipic semialdehyde dehydrogenase/antiquitin, resultin ... Full text Link to item Cite

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Journal Article J Inherit Metab Dis · January 2021 Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was ... Full text Link to item Cite

Child Neurology Applicants Place Increasing Emphasis on Quality of Life Factors.

Journal Article Pediatr Neurol · January 2021 BACKGROUND: Medical education, residency training, and the structure of child neurology residency training programs are evolving. We sought to evaluate how training program selection priorities of child neurology residency applicants have changed over time ... Full text Open Access Link to item Cite

Disorders of pyridoxine metabolism

Chapter · January 1, 2020 Disorders of pyridoxine metabolism include pyridoxine-dependent epilepsy (PDE) due to antiquitin (ATQ) deficiency, PDE due to abnormalities in pyridoxal 5'-phosphate (PLP) homeostasis protein (PLPHP deficiency, a PLP-responsive epileptic encephalopathy due ... Full text Cite

Disorders of manganese transport

Chapter · January 1, 2020 Manganese transport across cell membranes is highly regulated to prevent toxic accumulation or deficiency. In recent years, three autosomal recessive disorders of manganese transport have been reported. Patients with pathogenic variants in SLC30A10 manifes ... Full text Cite

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Journal Article J Inherit Metab Dis · March 2019 Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay ... Full text Link to item Cite

Pediatric out-of-hospital cardiac arrest: Time to goal target temperature and outcomes.

Journal Article Resuscitation · February 2019 AIM: Although recent out-of-hospital cardiac arrest (CA) trials found no benefits of hypothermia versus normothermia targeted temperature management, preclinical models suggest earlier timing of hypothermia improves neuroprotective efficacy. This study inv ... Full text Link to item Cite

Telemedicine and Child Neurology.

Journal Article J Child Neurol · January 2019 Over the past 2 decades, various telehealth technologies, in particular synchronous video teleconferencing between provider and patient, have been incorporated into the practice of neurology. The practice of child neurology is now starting to take advantag ... Full text Link to item Cite

Pyridoxine-Dependent Epilepsy

Chapter · January 1, 2019 Full text Cite

Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.

Journal Article Neurology · July 3, 2018 OBJECTIVE: To evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE). METHODS: Measurements were conducted through landmark-based geometric morphometrics applied on cerebral MRIs of pat ... Full text Link to item Cite

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

Journal Article European Journal of Paediatric Neurology · July 2018 Full text Cite

Neonatal Seizures

Chapter · January 1, 2018 Full text Cite

Neonatal Seizures

Chapter · January 1, 2017 Full text Cite

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.

Journal Article Pediatr Neurol · July 2016 BACKGROUND: Channelopathies are a group of monogenic disorders that affect a single ion channel and can result in neurological disease. While a rare cause of epilepsy, channelopathies offer unique insight to the molecular basis of epilepsy and treatment op ... Full text Link to item Cite

Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy.

Journal Article Pediatr Neurol · January 2016 BACKGROUND: In this observational study, white matter structure, functional magnetic resonance imaging (fMRI) task-based responses, and functional connectivity were assessed in four subjects with high functioning pyridoxine-dependent epilepsy and age-match ... Full text Link to item Cite

Integrating neurocritical care approaches into neonatology: should all infants be treated equitably?

Journal Article J Perinatol · December 2015 To improve the neurologic outcomes for infants with brain injury, neonatal providers are increasingly implementing neurocritical care approaches into clinical practice. Term infants with brain injury have been principal beneficiaries of neurologically-inte ... Full text Link to item Cite

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Journal Article Neurology · September 1, 2015 OBJECTIVE: To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1. METHODS: We designed a custom oligonucleotide arra ... Full text Link to item Cite

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

Journal Article Hum Mutat · September 2015 Choline acetyltransferase catalyzes the synthesis of acetylcholine at cholinergic nerves. Mutations in human CHAT cause a congenital myasthenic syndrome due to impaired synthesis of ACh; this severe variant of the disease is frequently associated with unex ... Full text Link to item Cite

Disorders of Pyridoxine Metabolism

Chapter · November 13, 2014 Disorders of pyridoxine metabolism include pyridoxine-dependent epilepsy (PDE), pyridoxal-5′-phosphate- responsive epileptic encephalopathy, and tissue nonspecific isoenzyme of alkaline phosphatase deficiency. This chapter focuses on antiquitin (ATQ) defic ... Full text Cite

Callosal alterations in pyridoxine-dependent epilepsy.

Journal Article Dev Med Child Neurol · November 2014 AIM: While there have been isolated reports of callosal morphology differences in pyridoxine-dependent epilepsy (PDE), a rare autosomal disorder caused by ALDH7A1 gene mutations, no study has systematically evaluated callosal features in a large sample of ... Full text Link to item Cite

Delayed-onset movement disorder and encephalopathy after oxycodone ingestion.

Journal Article Semin Pediatr Neurol · June 2014 We present the case of a 14-year-old girl with a biphasic course after oxycodone ingestion. Clinically, she had a rapid return to baseline after initial ingestion and presented a week later with new-onset ballism, akathisia, and encephalopathy. Neuroimagin ... Full text Link to item Cite

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Journal Article Neuromuscul Disord · April 2014 Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscular dys ... Full text Link to item Cite

Pathology of inherited manganese transporter deficiency.

Journal Article Ann Neurol · April 2014 We followed a patient with manganese transporter deficiency due to homozygous SLC30A10 mutations from age 14 years until his death at age 38 years and present the first postmortem findings of this disorder. The basal ganglia showed neuronal loss, rhodanine ... Full text Link to item Cite

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Journal Article Muscle Nerve · April 2014 INTRODUCTION: Myotonia congenita due to protein truncating CLCN1 mutations is associated with variable patterns of inheritance. METHODS: Three family kindreds are described, all of whom possess protein truncating mutations (Y33X, fs503X, R894X). One lineag ... Full text Link to item Cite

Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup.

Journal Article J Child Neurol · April 2014 Using vignettes of real cases and the SimulConsult diagnostic decision support software, neurologists listed a differential diagnosis and workup before and after using the decision support. Using the software, there was a significant reduction in error, up ... Full text Link to item Cite

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

Journal Article JIMD Rep · 2014 BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed that ad ... Full text Link to item Cite

Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.

Journal Article Ann Neurol · January 2014 OBJECTIVE: A high incidence of structural brain abnormalities has been reported in individuals with pyridoxine-dependent epilepsy (PDE). PDE is caused by mutations in ALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesi ... Full text Link to item Cite

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.

Journal Article Mov Disord · December 2013 BACKGROUND: Head-shaking stereotypies have been described in patients with neurological impairment. We noted an unusual preponderance of head shaking in patients with rhombencephalosynapsis (RES). We sought to delineate the movements further and determine ... Full text Link to item Cite

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.

Journal Article Mol Genet Metab · November 2013 α-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE using a LC-MS/MS method we developed previously. Both α-AASA and P6C were elevated markedly in the three newborn DBS stored at -20°C. At room temperature, α-AASA ... Full text Link to item Cite

Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.

Journal Article Am J Med Genet A · December 2012 A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine-dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin. Sin ... Full text Link to item Cite

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

Journal Article Mol Genet Metab · November 2012 OBJECTIVE: To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by ... Full text Link to item Cite

CALLOSAL AND WHITE MATTER FEATURES IN PYRIDOXINE-DEPENDENT EPILEPSY (PDE)

Conference JOURNAL OF INHERITED METABOLIC DISEASE · September 1, 2012 Link to item Cite

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Journal Article Am J Hum Genet · March 9, 2012 Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. We have recently reported a suspected autosomal recessively inherited ... Full text Link to item Cite

Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.

Journal Article Pediatr Neurol · April 2011 A 2-year-old girl from a consanguineous marriage was evaluated for refractory seizures that had presented at birth. Since her presentation, she had been treated with pyridoxine and antiepileptic medications. Because she did not manifest the expected clinic ... Full text Link to item Cite

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Journal Article Mol Genet Metab · 2011 Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure control most patients have intellectual disability. Folinic acid ... Full text Link to item Cite

Pyridoxine-dependent epilepsy

Chapter · January 1, 2011 The causal disease Definitions and epidemiology Pyridoxine-dependent epilepsy (PDE) is a familial autosomal recessive disorder that results in intractable seizures presenting in newborns and older infants that come under control only after the administrati ... Full text Cite

SYNDROME OF HYPERMANGANESAEMIA, DYSTONIA AND LIVER CIRRHOSIS-PHENOTYPES OF 14 NEW PATIENTS

Conference JOURNAL OF INHERITED METABOLIC DISEASE · January 1, 2011 Link to item Cite

Redefining outcome of first seizures by acute illness.

Journal Article Pediatrics · December 2010 BACKGROUND: Seizures are common in children, but the causes and recurrence risk for children with a nonfebrile first seizure remain poorly understood. OBJECTIVE: In a prospective longitudinal study of children who presented with a first-time seizure, we in ... Full text Link to item Cite

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Journal Article Neuromuscul Disord · August 2010 Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in 15 manifesting carriers identified among 860 subjects within t ... Full text Link to item Cite

Neonatal vitamin-responsive epileptic encephalopathies.

Journal Article Chang Gung Med J · 2010 The treatment of neonatal seizures generally relies on the use of one or more anticonvulsant medications along with evaluation and management of any underlying etiology. In some circumstances, neonatal seizures are refractory to therapy and result in poor ... Link to item Cite

Other organic chemicals

Chapter · December 1, 2009 Full text Cite

Organic solvents

Chapter · December 1, 2009 Full text Cite

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.

Journal Article J Neurosci Methods · October 30, 2009 Pyridoxine-dependent seizures (PDS) is an autosomal recessive disorder characterized by seizures presenting in neonates or infants up to 3 years of age which respond to pharmacological doses of pyridoxine. Alpha-aminoadipic semialdehyde dehydrogenase (anti ... Full text Link to item Cite

Organic Solvents

Chapter · June 18, 2009 Full text Cite

Other Organic Chemicals

Chapter · June 18, 2009 Full text Cite

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

Journal Article Eur J Pediatr · June 2009 To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease registry was established for affected patients in the United States and Canada. From 1999 to 2007, 63 cases, ranging in age from 11 months to 40 years, were registered. ... Full text Link to item Cite

Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.

Journal Article Dev Med Child Neurol · May 2009 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary motor and sensory neuropathy) is the most frequent form of this disease, affecting 60 to 80% of the CMT po ... Full text Link to item Cite

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

Journal Article Epilepsia · May 2009 PURPOSE: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin g ... Full text Link to item Cite

Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure.

Journal Article Reprod Toxicol · January 2009 While there is evidence that human perinatal exposure to environmental tobacco smoke (ETS) can result in an increased risk of respiratory disorders and sudden infant death syndrome, evidence linking ETS exposure to neurodevelopmental handicaps is suggestiv ... Full text Link to item Cite

Gastrointestinal illness and first-time seizures in children

Conference AMERICAN JOURNAL OF EPIDEMIOLOGY · June 1, 2008 Link to item Cite

Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

Journal Article Muscle Nerve · February 2007 Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being consid ... Full text Link to item Cite

Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.

Journal Article Curr Opin Neurol · April 2006 PURPOSE OF REVIEW: Pyridoxine dependency is an uncommon but important cause of intractable seizures presenting in infancy and early childhood. This paper discusses recent clinical, biochemical and genetic studies and how the findings should change our appr ... Full text Link to item Cite

Nonhuman primate models of intrauterine cytomegalovirus infection.

Journal Article ILAR J · 2006 Congenital human cytomegalovirus (HCMV) infection has long been recognized as a threat to the developing fetus, even though studies have shown that only a subset of congenital infections results in clinical signs of disease. Among the estimated 8000 childr ... Full text Link to item Cite

Hospital pharmacy and emergency department availability of parenteral pyridoxine.

Journal Article Pediatr Emerg Care · September 2005 OBJECTIVES: Pyridoxine is a recommended antidote that should be available in emergency departments (EDs). A pediatric use of this preparation is the treatment of acute seizures secondary to pyridoxine dependency or responsiveness. Two cases of children wit ... Full text Link to item Cite

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.

Journal Article Neurogenetics · September 2005 Pyridoxine-dependent seizure (PDS) is a rare autosomal recessive intractable seizure disorder only controlled by a daily supplementation of pharmacological doses of pyridoxine (Vitamin B6). Although glutamate decarboxylase utilizes pyridoxal phosphate as a ... Full text Link to item Cite

Nonfebrile illness seizures: a unique seizure category?

Journal Article Epilepsia · June 2005 PURPOSE: To describe the clinical characteristics of children with a first-time nonfebrile seizure in the setting of mild illness and to test the hypothesis that these seizures are associated with illness characterized by diarrhea. METHODS: This retrospect ... Full text Link to item Cite

Seizures, syncope, or breath-holding presenting to the pediatric neurologist--when is the etiology a life-threatening arrhythmia?

Journal Article Semin Pediatr Neurol · March 2005 Using case reports from their own experience and in the literature the authors illustrate the difficulty in distinguishing non-life threatening causes, including epilepsy, from a serious cardiac arrythmia when evaluating children with paroxysmal events. Fo ... Full text Link to item Cite

Nonfebrile provoked seizures: A unique seizure category?

Conference PEDIATRIC RESEARCH · April 1, 2004 Link to item Cite

Pyridoxine-dependent seizures and cognition in adulthood.

Journal Article Dev Med Child Neurol · November 2003 A case report of neonatal onset pyridoxine-dependent seizures in a male patient with early diagnosis and treatment is presented. The patient's epilepsy was recognized and treated with pyridoxine (vitamin B6) within 8 hours of birth. Treatment has been near ... Full text Link to item Cite

Genetic heterogeneity for pyridoxine dependent seizures.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

Pyridoxine-dependent seizures: findings from recent studies pose new questions.

Journal Article Pediatr Neurol · March 2002 Pyridoxine-dependent seizures, although a rare clinical entity, have been recognized as an etiology of intractable seizures in neonates and infants for more than 45 years. Recent research has focused on the molecular and neurochemical aspects of this disor ... Full text Link to item Cite

Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis.

Journal Article Arch Dis Child · November 2000 Progressive myelopathy is a rare complication of chronic hepatic disease which has never been reported in the paediatric age group. We describe the 11 year course of an adolescent male with hepatic myelopathy caused by cryptogenic micronodular cirrhosis. H ... Full text Link to item Cite

Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.

Journal Article Neurology · July 25, 2000 Several aspects of pyridoxine-dependent seizure (PDS) suggest a mutation affecting glutamate decarboxylase (GAD) as a possible cause. To examine the possibility of GAD linkage with PDS, the authors performed genotype analyses of three families using polymo ... Full text Link to item Cite

Prenatal exposure to toluene results in abnormal neurogenesis and migration in rat somatosensory cortex.

Journal Article Pediatr Res · March 2000 Toluene inhalant abuse during pregnancy may result in growth-retarded microcephalic newborns who subsequently demonstrate developmental impairment. By using a rat model of toluene-abuse embryopathy, we studied the effects of prenatal toluene exposure on th ... Full text Link to item Cite

Reply.

Journal Article J Pediatr · June 1999 Full text Link to item Cite

Longitudinal MRI findings in pyridoxine-dependent seizures.

Journal Article Neurology · July 1998 BACKGROUND: Pyridoxine dependency is an uncommon familial cause of intractable seizures in newborns and infants. Fewer than 100 patients have been reported, and only four reports have included examples of brain imaging findings. We report the first longitu ... Full text Link to item Cite

Toluene abuse embryopathy: longitudinal neurodevelopmental effects of prenatal exposure to toluene in rats.

Journal Article Reprod Toxicol · 1998 To determine the longitudinal effects of prenatal exposure to toluene in rats, dams received daily gavage doses of toluene diluted in corn oil on Days 6 through 19 of gestation, whereas control dams received corn oil. Litters were evaluated either on Gesta ... Full text Link to item Cite

Double labeling of proliferating neurons with anti-BrdU and anti-NeuN: An improved immunohistochemical technique utilizing microwave irradiation

Journal Article Journal of Histotechnology · January 1, 1998 The authors describe a double labeling immunohistochemical technique to facilitate the study of neuronal proliferation and migration. Proliferating fetal neuroblasts were labeled with 5-bromo-2'-deoxyuridine (BrdU), and the labeled mature neurons were iden ... Full text Cite

Fulminant demyelinating neuropathy mimicking cerebral death.

Journal Article Muscle Nerve · December 1997 Guillain-Barré syndrome can very rarely present with acute quadripares and cranial nerve involvement resembling a locked-in state. We describe a very unusual case of fulminant neuropathy in a child who was previously exposed to vincristine. The clinical pi ... Full text Link to item Cite

Longitudinal MRI findings in pyridoxine-dependent seizures

Conference ANNALS OF NEUROLOGY · September 1, 1997 Link to item Cite

Multiple organ failure after ingestion of pennyroyal oil from herbal tea in two infants.

Journal Article Pediatrics · November 1996 BACKGROUND: Hepatic and neurologic injury developed in two infants after ingestion of mint tea. Examination of the mint plants, from which the teas were brewed, indicated that they contained the toxic agent pennyroyal oil. METHODS: Sera from each infant we ... Link to item Cite

Development of a rat model of toluene-abuse embryopathy.

Journal Article Pediatr Res · July 1996 A rat model was developed to study toluene-abuse embryopathy, a clinical syndrome which occurs in offspring of women who abuse toluene during pregnancy. On d 6-19 of gestation, eight dams received a daily gavage dose of toluene, 650 mg/kg body weight, dilu ... Full text Link to item Cite

Spinal arteriovenous malformation presenting as meningitis.

Journal Article Dev Med Child Neurol · June 1996 An 8-month-old boy presented with a two-day history of lethargy. Meningitis was suspected, and cerebrospinal fluid examination demonstrated pleocytosis and elevated protein. After initial improvement with antibiotic and steroid therapy, progressive lower e ... Full text Link to item Cite

Effects of environmental tobacco smoke exposure in utero and/or postnatally on brain development.

Journal Article Pediatr Res · March 1996 We evaluated whether environmental tobacco smoke exposure in utero and/or postnatally affects the biochemical composition of the brain. Pregnant Sprague-Dawley rats were exposed to filtered air (FA) or to sidestream smoke (SS) for 4 h/d, 7 d/wk from d 3 of ... Full text Link to item Cite

Behavioral and neurochemical changes in folate-deficient mice.

Journal Article Physiol Behav · November 1995 Weanling mice were fed an amino acid-based diet supplemented with 0 or 11.3 mumol folic acid/kg diet for approximately 38 days to study behavior and neurochemistry in folate deficiency. After approximately 5 wk, mice fed the unsupplemented diet weighted ap ... Full text Link to item Cite

Transient cortical blindness in an infant exposed to methamphetamine.

Journal Article Ann Emerg Med · September 1995 An 11-month-old boy was brought to the pediatric emergency department for evaluation of acute onset of irritability and involuntary side-to-side turning of the head. Neurologic examination revealed cortical blindness. Toxicologic studies of blood and urine ... Full text Link to item Cite

Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination.

Journal Article Neurology · August 1995 The spatial distribution of metabolite signal intensities can be measured within entire sections of the brain by proton magnetic resonance spectroscopic imaging (1H-MRSI). A group of six patients (4 unrelated girls and 2 brothers from 5 families) with chil ... Full text Link to item Cite

Fatal infantile polyarteritis nodosa with predominant central nervous system involvement.

Journal Article Stroke · April 1995 BACKGROUND: Infantile polyarteritis nodosa usually presents in children under 2 years of age as a multiorgan system disease with signs of congestive heart failure or renal failure. This disease and Kawasaki disease may share certain clinical and pathologic ... Full text Link to item Cite

Cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in the pediatric opsoclonus-myoclonus syndrome.

Journal Article Ann Neurol · February 1995 To study the purported role of central monoamine disturbances in the pathophysiology of the opsoclonus-myoclonus syndrome, the serotonin metabolite 5-hydroxyindoleacetic acid and the dopamine metabolite homovanillic acid were measured in cerebrospinal flui ... Full text Link to item Cite

The effects of high-dose toluene on embryonic development in the rat.

Journal Article Pediatr Res · December 1994 Developmental disability, intrauterine growth retardation, renal anomalies, and dysmorphic features have been described in offspring of women who abuse toluene during pregnancy. A Sprague-Dawley rat model was developed to study this clinical syndrome. Duri ... Full text Link to item Cite

Stable-isotope dilution GC-MS for determination of toluene in submilliliter volumes of whole blood.

Journal Article J Anal Toxicol · September 1994 An accurate and sensitive yet simple protocol for the analysis of toluene in submilliliter quantities of whole blood using stable-isotope dilution GC-MS has been developed and evaluated for use in pharmacokinetic studies of toluene exposure. The method inv ... Full text Link to item Cite

Reduced GABA synthesis in pyridoxine-dependent seizures.

Journal Article Lancet · May 7, 1994 An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesizes gamma-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblas ... Full text Link to item Cite

Comparison of oral and inhalation exposures to toluene

Journal Article Journal of the American College of Toxicology · January 1, 1994 Male Fisher-344 rats were exposed to [14C]toluene by either liquid gavage or vapor inhalation and blood toluene levels were measured by radiospectroscopy. Oral doses of 110, 336, 741, and 911 mg toluene/kg body weight were administered to 82 rats by gavage ... Full text Cite

Nutritional factors and anticonvulsant therapies: effect on growth in children with epilepsy.

Journal Article Am J Clin Nutr · December 1993 Factors influencing growth before puberty were examined in a group of 32 epileptic children in a cross-sectional investigation. Participants in the study were divided into two groups according to what anticonvulsant drug, carbamazepine or valproic acid, th ... Full text Link to item Cite

Visual evoked potentials and visual processing in stimulant drug-exposed infants.

Journal Article Dev Med Child Neurol · September 1993 Prenatal exposure to cocaine and amphetamines has been associated with many adverse effects in infants, including neurological abnormalities. Recent evidence shows that the visual system may be useful in infancy to evaluate neurological functioning. Visual ... Full text Link to item Cite

Brainstem bilirubin toxicity in the newborn primate may be promoted and reversed by modulating PCO2.

Journal Article Pediatr Res · July 1993 The auditory brainstem response (ABR) was monitored during infusion of bilirubin in six ventilated newborn rhesus monkeys (138-145 d gestation) while acute changes in pH were produced by varying inspired CO2. Prolonged respiratory acidosis without bilirubi ... Full text Link to item Cite

Brain injury and protective effects of hypothermia using triphenyltetrazolium chloride in neonatal rat.

Journal Article Pediatr Neurol · 1993 Colorless 2,3,5-triphenyltetrazolium chloride (TTC) is reduced by enzymes in functioning mitochondria to a red-colored compound, and has been used to differentiate areas of viable tissue from areas of infarction in adult animals. TTC was used to study the ... Full text Link to item Cite

Routine monitoring of the electrocardiogram Q-T interval in the EEG laboratory

Journal Article American Journal of EEG Technology · January 1, 1992 Patients with prolongation of the Q-T interval of the electrocardiogram are at risk for ventricular tachyarrhythmias which can lead to severe neurologic morbidity and mortality secondary to cerebral ischemia. Since these patients may present with seizures ... Full text Cite

A pediatrician's personal reflections on varicella.

Journal Article Pediatrics · September 1990 Link to item Cite

Electroencephalography laboratory diagnosis of prolonged QT interval.

Journal Article Ann Neurol · September 1990 Patients with prolongation of the QT interval are at risk for significant neurological morbidity and mortality secondary to ventricular tachyarrhythmias. These patients frequently undergo electroencephalographic (EEG) examination to evaluate episodes of lo ... Full text Link to item Cite

Toluene dementia.

Journal Article Neurology · August 1990 Full text Link to item Cite

Measurement of spontaneous rotational movement (circling) in normal children.

Journal Article J Child Neurol · January 1990 An asymmetry of basal ganglia dopaminergic function has been demonstrated in rats and related to both spontaneous and drug-induced rotation. An electronic device that measures the same kind of rotational movements in humans has been developed, and we have ... Full text Link to item Cite

Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.

Journal Article Neurology · October 1989 We report a family with an X-linked recessive disorder characterized by muscle cramps and myalgia. Nine affected male family members had high resting serum levels of creatine kinase, and well-developed musculature with calf hypertrophy but no evidence of m ... Full text Link to item Cite

Hereditary long Q-T syndrome presenting as epilepsy: electroencephalography laboratory diagnosis.

Journal Article Ann Neurol · May 1989 Patients with hereditary Q-T interval prolongation can present with seizures, syncope, and sudden death. In 2 siblings with autosomal dominant familial long Q-T syndrome, electroencephalographic examinations performed 6 and 2 years before diagnosis include ... Full text Link to item Cite

Acute vincristine neurotoxicity in the presence of hereditary motor and sensory neuropathy type I.

Journal Article Med Pediatr Oncol · 1989 Acute vincristine neurotoxicity leading to a severe motor and sensory neuropathy has been noted in patients with hereditary motor and sensory neuropathy type I (HMSN-I). The case of a 2-year-old boy with acute lymphocytic leukemia and HMSN-I is reported, a ... Full text Link to item Cite

Central nervous system distribution of inhaled toluene

Journal Article Toxicological Sciences · December 1, 1988 Central Nervous System Distribution of Inhaled Toluene. GOSPE, S. M., JR., AND CALABAN, M. J.Fundam. Appl. Toxicol 11, 540-545. The regional central nervous system distribution of inhaled [14C]toluene was studied in the rat. Toluene was detected in all bra ... Full text Cite

Central nervous system distribution of inhaled toluene.

Journal Article Fundam Appl Toxicol · October 1988 The regional central nervous system distribution of inhaled [14C]toluene was studied in the rat. Toluene was detected in all brain regions, with the highest concentrations in the brainstem. The initial uptake of toluene was significantly correlated with th ... Full text Link to item Cite

Myeloradiculopathy associated with wasp sting.

Journal Article Pediatr Neurol · 1988 A 12-year-old girl developed a reversible myeloradiculopathy 1 week after a wasp sting. Delayed neurologic hypersensitivity reactions to Hymenopteran stings occur primarily in adults. Reactions involving both the peripheral and central nervous systems are ... Full text Link to item Cite

Nemaline myopathy associated with hypertrophic cardiomyopathy.

Journal Article Pediatr Neurol · 1988 Nemaline myopathy is not usually considered to involve cardiac muscle and rarely is associated with nocturnal hypoventilation. We report a boy, 5 1/2 years of age, with nemaline myopathy who presented with respiratory failure. Echocardiography demonstrated ... Full text Link to item Cite

Life-threatening congestive heart failure as the presentation of centronuclear myopathy.

Journal Article Pediatr Neurol · 1987 Myocardiopathy is associated infrequently with centronuclear myopathy. We present biopsy studies of a 15 1/2-year-old black male who presented with profound acute congestive heart failure and diffuse muscular atrophy. Cardiac symptoms had been present for ... Full text Link to item Cite

Infantile spasms following near-drowning: a report of two cases.

Journal Article Epilepsia · 1987 We report the occurrence of infantile spasms following near-drowning in two children with previously normal development. In both cases, the episode of near-drowning occurred well after the 1st year of life, and the age at onset of spasms (20 and 34 months, ... Full text Link to item Cite

Drug-induced dystonia in neuronal ceroid-lipofuscinosis.

Journal Article Pediatr Neurol · 1986 Neuroleptic-induced tardive dystonia is frequently refractory to therapy. We describe a 13-year-old girl with neuronal ceroid-lipofuscinosis who developed dystonia after beginning treatment with thioridazine for acute psychosis. Although anticholinergic dr ... Full text Link to item Cite

Studies of dopamine pharmacology in molluscs.

Journal Article Life Sci · November 14, 1983 Dopamine has been established as a putative neurotransmitter in several species of molluscs. Biochemical and neurophysiological studies of the cellular pharmacology of dopamine have revealed several properties of molluscan dopamine receptors. The biochemic ... Full text Link to item Cite

Burst-firing inhibition of cell R 15 in Aplysia californica: Pharmacological studies of the effects of tyramine, β-phenethylamine and D-amphetamine

Journal Article Comparative Biochemistry and Physiology. Part C, Comparative · January 1, 1982 1. Current-voltage relationship studies have shown that both synaptic and dopamine (DA)-induced burst-firing inhibition of cell R 15 in Aplysia californica are due to a reduction of the depolarization-activated inward current which underlies bursting. Bath ... Full text Cite

Pharmacological studies of a novel dopamine-sensitive receptor mediating burst-firing inhibition of neurosecretory cell R 15 in Aplysia californica.

Journal Article J Pharmacol Exp Ther · February 1981 Burst-firing activity of neuron R 15 in the abdominal ganglion of Aplysia californica is inhibited by dopamine (DA) (50-500 microM). By using voltage clamp analysis of agonist-induced reduction of inward current and bath application of pharmacological agen ... Link to item Cite

Biochemical and histochemical studies of the effect of reserpine in Aplysia californica

Journal Article Comparative Biochemistry and Physiology. Part C, Comparative · January 1, 1981 1. 1. Biochemical and histochemical studies of the effect of reserpine on dopamine levels in nervous-system tissue of Aplysia californica were performed. 2. 2. High-pressure liquid chromatography measurements revealed that reserpine treatment dramatically ... Full text Cite

Dopamine inhibits burst-firing of neurosecretory cell R 15 in Aplysia californica: establishment of a dose-response relationship.

Journal Article J Pharmacol Exp Ther · July 1980 Burst-firing in neurosecretory cell R 15 of Aplysia californica is inhibited by the bath application of dopamine. Voltage-clamp analysis reveals a complex series of changes in the current-voltage relationship of R 15. Dopamine reduces the inward current in ... Link to item Cite

Inhibition of burst-firing in cell R 15 of Aplysia californica: Effects of catecholamine releasing agents

Journal Article Neuroscience Letters · January 1, 1980 Evidence suggests that inhibition of long duration (ILD)in burst-firing cell R 15 is mediated by dopamine (DA). Current-voltage (IV) relationship studies using voltage-clamp techniques have shown that burst-firing inhibition is due to a reduction of the de ... Cite

Hypothalamic thermosensitivity in California quail (Lophortyx californicus)

Journal Article Journal of Comparative Physiology ■ B · January 1, 1977 1. Manipulations of hypothalamic temperature (Thy) in California quail produced no significant changes in metabolic rate (MR) from the non-manipulated state (Figs. 1 and 2; Table 1). 2. MR was significantly influenced by ambient temperature (Ta), with MR d ... Full text Cite