Scholars@Duke
Sujay Mansukhlal Kansagra

Sujay Mansukhlal Kansagra

Professor of Pediatrics
Pediatrics, Neurology
sujay.kansagra@duke.edu
Dept of Pediatrics, BOX_3936, Durham, NC 27710
Manage Profile
Embed Profile Data

Selected Publications

Effect of sodium oxybate on body mass index in pediatric patients with narcolepsy.

Journal Article J Clin Sleep Med · March 1, 2024 STUDY OBJECTIVES: We examined body mass index (BMI) changes associated with sodium oxybate treatment (SXB) in pediatric patients with narcolepsy with cataplexy who participated in a double-blind, placebo-controlled, randomized withdrawal study and an open- ... 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

Impact of daily caffeine intake and timing on electroencephalogram-measured sleep in adolescents.

Journal Article J Clin Sleep Med · March 1, 2022 STUDY OBJECTIVES: Caffeine use is ubiquitous among adolescents and may be harmful to sleep, with downstream implications for health and development. Research has been limited by self-reported and/or aggregated measures of sleep and caffeine collected at a ... Full text Link to item Cite

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

Journal Article Hum Mol Genet · June 26, 2021 The Polycomb group (PcG) gene RNF2 (RING2) encodes a catalytic subunit of the Polycomb repressive complex 1 (PRC1), an evolutionarily conserved machinery that post-translationally modifies chromatin to maintain epigenetic transcriptional repressive states ... Full text Link to item Cite

Sleep Disorders in Adolescents.

Journal Article Pediatrics · May 2020 Chronic sleep deprivation is a common, treatable condition among adolescents. Growing literature supports a myriad consequences that impact overall health, behavior, mood, and academic performance in this vulnerable age group during a time when there are r ... 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

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

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · September 6, 2018 Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · August 2, 2018 Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Her ... Full text Link to item Cite

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Journal Article Genet Med · April 2018 PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted sin ... Full text Open Access 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

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

A Phase I, Open-Label, Single-Dose Safety, Pharmacokinetic, and Tolerability Study of the Sumatriptan Iontophoretic Transdermal System in Adolescent Migraine Patients.

Journal Article Headache · September 2016 OBJECTIVE: To evaluate the safety, tolerability, and pharmacokinetics of sumatriptan delivered by the iontophoretic transdermal system (TDS) in adolescent patients. BACKGROUND: Since nausea can be a prominent and early symptom of migraine, nonoral treatmen ... Full text Link to item Cite

Epilepsy in KCNH1-related syndromes.

Journal Article Epileptic Disord · June 1, 2016 KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic fac ... Full text Link to item Cite

Longitudinal polysomnographic findings in infantile Pompe disease.

Journal Article Am J Med Genet A · April 2015 Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which p ... Full text Link to item Cite

Effect of sodium oxybate on body mass index in pediatric patients with narcolepsy.

Journal Article J Clin Sleep Med · March 1, 2024 STUDY OBJECTIVES: We examined body mass index (BMI) changes associated with sodium oxybate treatment (SXB) in pediatric patients with narcolepsy with cataplexy who participated in a double-blind, placebo-controlled, randomized withdrawal study and an open- ... 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

Impact of daily caffeine intake and timing on electroencephalogram-measured sleep in adolescents.

Journal Article J Clin Sleep Med · March 1, 2022 STUDY OBJECTIVES: Caffeine use is ubiquitous among adolescents and may be harmful to sleep, with downstream implications for health and development. Research has been limited by self-reported and/or aggregated measures of sleep and caffeine collected at a ... Full text Link to item Cite

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

Journal Article Hum Mol Genet · June 26, 2021 The Polycomb group (PcG) gene RNF2 (RING2) encodes a catalytic subunit of the Polycomb repressive complex 1 (PRC1), an evolutionarily conserved machinery that post-translationally modifies chromatin to maintain epigenetic transcriptional repressive states ... Full text Link to item Cite

Sleep Disorders in Adolescents.

Journal Article Pediatrics · May 2020 Chronic sleep deprivation is a common, treatable condition among adolescents. Growing literature supports a myriad consequences that impact overall health, behavior, mood, and academic performance in this vulnerable age group during a time when there are r ... 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

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

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · September 6, 2018 Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · August 2, 2018 Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Her ... Full text Link to item Cite

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Journal Article Genet Med · April 2018 PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted sin ... Full text Open Access 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

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

A Phase I, Open-Label, Single-Dose Safety, Pharmacokinetic, and Tolerability Study of the Sumatriptan Iontophoretic Transdermal System in Adolescent Migraine Patients.

Journal Article Headache · September 2016 OBJECTIVE: To evaluate the safety, tolerability, and pharmacokinetics of sumatriptan delivered by the iontophoretic transdermal system (TDS) in adolescent patients. BACKGROUND: Since nausea can be a prominent and early symptom of migraine, nonoral treatmen ... Full text Link to item Cite

Epilepsy in KCNH1-related syndromes.

Journal Article Epileptic Disord · June 1, 2016 KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic fac ... Full text Link to item Cite

Longitudinal polysomnographic findings in infantile Pompe disease.

Journal Article Am J Med Genet A · April 2015 Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which p ... Full text Link to item Cite

Polysomnographic findings in infantile Pompe disease.

Journal Article Am J Med Genet A · December 2013 Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to m ... Full text Link to item Cite

Pediatric sleep apnea Five things you might not know

Journal Article Neurology: Clinical Practice · August 1, 2013 Obstructive sleep apnea is a frequently overlooked, treatable disorder that is common among children. This article discusses 5 important aspects of this disorder that might not be known to the general pediatric practitioner or pediatric neurologist. These ... Full text Cite

Nocturnal temazepam in the treatment of narcolepsy.

Journal Article J Clin Sleep Med · May 15, 2013 Narcolepsy is characterized by fragmented nighttime sleep and frequent arousals. One treatment approach to improve daytime symptoms is to consolidate nighttime sleep through decreasing arousals. Sodium oxybate is the first FDA-approved medication that foll ... Full text Link to item Cite

REM behavior disorder in adults

Chapter · January 1, 2013 Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by loss of REM sleep atonia and clinical manifestations of dream reenactment. Patients typically present at the request of bed partners due to the often violent and danger ... Full text 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

Sleep-disordered breathing in Beckwith-Wiedemann syndrome: three patients.

Journal Article Am J Med Genet A · November 2012 Beckwith-Wiedemann syndrome is associated with craniofacial abnormalities that may predispose patients to sleep-related breathing disorders. There is limited literature on the polysomnography findings for children with this syndrome. Three patients with Be ... Full text Link to item Cite

Cytokine storm of acute necrotizing encephalopathy.

Journal Article Pediatr Neurol · December 2011 Featured Publication Acute necrotizing encephalopathy is a rare, clinically distinct entity characterized by multiple, symmetric areas of edema and necrosis in the thalamus, cerebellum, brainstem, and white matter. It is postulated to arise from uncontrolled cytokine release d ... Full text Link to item Cite

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

Journal Article Epilepsy Behav · March 2011 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

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

Journal Article Epilepsy Behav · September 2010 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 vagal nerve stimulator insertion.

Journal Article Epileptic Disord · March 2009 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