SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease

(2021) Shervin Pejhan et al.   Biomolecules

A systematic review of adults with Dravet syndrome

(2021) Arunan Selvarajah et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children

(2021) Zhi-xu Fang et al.   EPILEPSY RESEARCH

Predicting Sudden Unexpected Death in Epilepsy

(2021) Brett Lee   NEUROLOGY

Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice

(2021) Xinxiao Li et al.   Cell Death & Disease

Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy

(2021) Xianyu Liu et al.   Frontiers in Neurology

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

(2020) Ji-Hoon Na et al.   BRAIN & DEVELOPMENT

SCN 1A /Na V 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models

(2020) Massimo Mantegazza et al.   EPILEPSIA

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

(2020) Davide Mei et al.   EPILEPSIA

SCN1A‐related phenotypes: Epilepsy and beyond

(2020) Ingrid E. Scheffer et al.   EPILEPSIA

Analysis of genetic variants in SCN1A, SCN2A, KCNK18, TRPA1 and STX1A as a possible marker of migraine

(2020) Marta Kowalska et al.   CURRENT GENOMICS

The role of sodium channels in sudden unexpected death in pediatrics

(2020) Anne M. Rochtus et al.   Molecular Genetics & Genomic Medicine

Intellectual functioning and behavior in Dravet syndrome: A systematic review

(2020) Josefine Soto Jansson et al.   EPILEPSY & BEHAVIOR

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

(2020) Jiani Yin et al.   Genes

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

(2020) Dana Jaber et al.   JOURNAL OF MEDICAL GENETICS

West syndrome: a comprehensive review

(2020) Piero Pavone et al.   NEUROLOGICAL SCIENCES

Sudden Unexplained Death in Childhood: A Neuropathology Review

(2020) Declan McGuone et al.   Frontiers in Neurology

Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review

(2019) Yu Jia et al.   Frontiers in Neurology

Dravet Syndrome: A Developmental and Epileptic Encephalopathy

(2019) Luis Lopez-Santiago et al.   Epilepsy Currents

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations

(2019) Carlotta Spagnoli et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures

(2019) Katie Angione et al.   EPILEPSY RESEARCH

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and management

(2019) Kirsten M. Niles et al.   PRENATAL DIAGNOSIS

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

(2019) Rosemary Burgess et al.   ANNALS OF NEUROLOGY

Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants

(2019) Yukiko Hata et al.   BRAIN & DEVELOPMENT

Genotype-phenotype correlation on 45 individuals with West syndrome

(2019) Ilona Krey et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Altered vaccine-induced immunity in children with Dravet syndrome

(2018) Stéphane Auvin et al.   EPILEPSIA

SCN1A variants associated with sudden infant death syndrome

(2018) Catherine A. Brownstein et al.   EPILEPSIA

Genetics of neuromuscular fetal akinesia in the genomics era

(2018) Sarah Jane Beecroft et al.   JOURNAL OF MEDICAL GENETICS

Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation

(2018) Nadine Pelzer et al.   NEUROLOGY

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

(2018) Mari Wold Henriksen et al.   BMC Medical Genetics

Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report

(2018) Na Shao et al.   Frontiers in Neurology

Dravet syndrome and its mimics: Beyond SCN1A

(2017) Dora Steel et al.   EPILEPSIA

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

(2017) Jacqueline Neubauer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sudden infant death syndrome and inherited cardiac conditions

(2017) Alban-Elouen Baruteau et al.   Nature Reviews Cardiology

Not all SCN1A epileptic encephalopathies are Dravet syndrome

(2017) Lynette G. Sadleir et al.   NEUROLOGY

Lennox–Gastaut Syndrome: A State of the Art Review

(2017) Mario Mastrangelo   NEUROPEDIATRICS

Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy

(2016) Sarenur Gokben et al.   ACTA NEUROLOGICA BELGICA

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

(2016) Yu Kobayashi et al.   BRAIN & DEVELOPMENT

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

(2016) Chunxiang Fan et al.   CEPHALALGIA

A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report

(2016) Yang Zhang et al.   CEPHALALGIA

Mortality in Dravet syndrome: A review

(2016) Sharon Shmuely et al.   EPILEPSY & BEHAVIOR

Mortality in Dravet syndrome

(2016) Monica S. Cooper et al.   EPILEPSY RESEARCH

Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A

(2016) Zeyu Xiong et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Comprehensive molecular testing in patients with high functioning autism spectrum disorder

(2016) Maria Isabel Alvarez-Mora et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack

(2016) Nathalie Chastan et al.   NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

Autism and behavior in adult patients with Dravet syndrome (DS)

(2015) J.J.L. Berkvens et al.   EPILEPSY & BEHAVIOR

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

(2015) Byung Chan Lim et al.   EPILEPSY RESEARCH

Mosaic mutations in early-onset genetic diseases

(2015) Matt Halvorsen et al.   GENETICS IN MEDICINE

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

(2015) Monica Coll et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus

(2015) R. S. Puranam et al.   JOURNAL OF NEUROSCIENCE

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

Lennox-Gastaut syndrome. Management update

(2015) Muradi Al-Banji et al.   Neurosciences

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities

(2015) Yujia Zhang et al.   PLoS One

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

(2015) Anna Ka-Yee Kwong et al.   PLoS One

Two novel SCN1A mutations identified in families with familial hemiplegic migraine

(2014) Claudia M Weller et al.   CEPHALALGIA

Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley

(2014) José Barros et al.   CEPHALALGIA

Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations

(2013) Xiaojing Xu et al.   BRAIN & DEVELOPMENT

Sudden unexpected death in a mouse model of Dravet syndrome

(2013) Franck Kalume et al.   JOURNAL OF CLINICAL INVESTIGATION

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

(2013) Eriko Koshimizu et al.   PLoS One

Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions

(2013) Franck Kalume   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Mutations of the SCN1A gene in acute encephalopathy

(2012) Makiko Saitoh et al.   EPILEPSIA

Diagnosis and long-term course of Dravet syndrome

(2012) Ingrid E. Scheffer   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache

(2012) Patrick Frosk et al.   JOURNAL OF CHILD NEUROLOGY

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Therapeutic Hypothermia for Refractory Status Epilepticus in a Child with Malignant Migrating Partial Seizures of Infancy and SCN1A Mutation: A Case Report

(2012) Steven L. Shein et al.   Therapeutic Hypothermia and Temperature Management

Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy

(2011) Emily R. Freilich et al.   ARCHIVES OF NEUROLOGY

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

(2011) Bing-Mei Li et al.   EPILEPSY & BEHAVIOR

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

(2010) R. Brian Lowry et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine

(2010) Taku Omata et al.   BRAIN & DEVELOPMENT

Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress

(2010) SARAH A KELLEY et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Generalized Epilepsy With Febrile Seizures plus: Novel SCN1A Mutation

(2010) Petia S. Dimova et al.   PEDIATRIC NEUROLOGY

SCN1A mutation screening in adult patients with Lennox–Gastaut syndrome features

(2009) Kaja Kristine Selmer et al.   EPILEPSY & BEHAVIOR

Elicited repetitive daily blindness: A new phenotype associated with hemiplegic migraine and SCN1A mutations

(2009) K. Vahedi et al.   NEUROLOGY

First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy

(2008) M-J Castro et al.   CEPHALALGIA