Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

SCN8A heterozygous variants are associated with anoxic-epileptic seizures

(2020) Emmanuelle Ranza et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adjunctive Cannabidiol in Patients with Dravet Syndrome: A Systematic Review and Meta-Analysis of Efficacy and Safety

(2020) Simona Lattanzi et al.   CNS DRUGS

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family

(2020) Tian Zhang et al.   NEUROLOGICAL SCIENCES

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome

(2020) Wout J. Weuring et al.   PLoS One

Differential Inhibition of Human Nav1.2 Resurgent and Persistent Sodium Currents by Cannabidiol and GS967

(2020) Emily R. Mason et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

“Breath holding spells” in a child with SCN8A-related epilepsy: Expanding the clinical spectrum

(2019) Puneet Jain et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Structural basis of α-scorpion toxin action on Nav channels

(2019) Thomas Clairfeuille et al.   SCIENCE

Epilepsy in adults

(2019) Roland D Thijs et al.   LANCET

BmK AEP, an Anti-Epileptic Peptide Distinctly Affects the Gating of Brain Subtypes of Voltage-Gated Sodium Channels

(2019) Fan Zhang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The spectrum of intermediate SCN 8A ‐related epilepsy

(2019) Katrine M. Johannesen et al.   EPILEPSIA

Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

(2019) Julien Denis et al.   EPILEPSIA

Identifying mutations in epilepsy genes: Impact on treatment selection

(2019) Piero Perucca et al.   EPILEPSY RESEARCH

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

(2019) Henrike O. Heyne et al.   GENETICS IN MEDICINE

Novel epilepsy phenotype associated to a known SCN8A mutation

(2019) Roberta Epifanio et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort

(2019) Alejandra C. Encinas et al.   EPILEPSIA

Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy

(2019) Marina Trivisano et al.   EPILEPSY & BEHAVIOR

SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine

(2019) Shuzhang Zhang et al.   Neuroscience Bulletin

A single‐center SCN8A‐ related epilepsy cohort: clinical, genetic, and physiologic characterization

(2019) Tariq Zaman et al.   Annals of Clinical and Translational Neurology

De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy

(2019) Han Xie et al.   EPILEPSY RESEARCH

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy

(2019) Gregory Costain et al.   NEUROSCIENCE

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life

(2019) Se Song Jang et al.   Frontiers in Neurology

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

(2019) Kao-Min Lin et al.   BMC Pediatrics

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature

(2019) Luciana Midori Inuzuka et al.   BRAIN & DEVELOPMENT

Biallelic inherited SCN8A variants, a rare cause of SCN8A ‐related developmental and epileptic encephalopathy

(2019) Eric R. Wengert et al.   EPILEPSIA

Distinct functional alterations in SCN8A epilepsy mutant channels

(2019) Yanling Pan et al.   JOURNAL OF PHYSIOLOGY-LONDON

Structure of the Cardiac Sodium Channel

(2019) Daohua Jiang et al.   CELL

Genetic and clinical features of SCN8A developmental and epileptic encephalopathy

(2019) Hyo Jeong Kim et al.   EPILEPSY RESEARCH

A multi-disciplinary clinic for SCN8A-related epilepsy

(2019) John M Schreiber et al.   EPILEPSY RESEARCH

Recent advances in treatment of epilepsy-related sodium channelopathies

(2019) Elisa Musto et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The phenotypic spectrum of SCN2A-related epilepsy

(2019) Claire Reynolds et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria

(2018) Satoko Miyatake et al.   ANNALS OF NEUROLOGY

Mutations in SCN3A cause early infantile epileptic encephalopathy

(2018) Tariq Zaman et al.   ANNALS OF NEUROLOGY

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

(2018) John Hoon Rim et al.   BMC Medical Genomics

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet

(2018) Da-Jyun Su et al.   BRAIN & DEVELOPMENT

Treatment Strategies for Dravet Syndrome

(2018) Kelly G. Knupp et al.   CNS DRUGS

The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy

(2018) Erin M. Baker et al.   EPILEPSIA

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

(2018) Amanda S. Lindy et al.   EPILEPSIA

Early-onset epileptic encephalopathy with de novo SCN8A mutation

(2018) Yangyang Xiao et al.   EPILEPSY RESEARCH

Early mortality in SCN8A -related epilepsies

(2018) Katrine M. Johannesen et al.   EPILEPSY RESEARCH

The new definition and classification of seizures and epilepsy

(2018) Jessica J. Falco-Walter et al.   EPILEPSY RESEARCH

Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies

(2018) P. Zhou et al.   GENES BRAIN AND BEHAVIOR

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage dependent sodium channel

(2018) Debora Baroni et al.   HUMAN MUTATION

The E15R Point Mutation in Scorpion Toxin Cn2 Uncouples Its Depressant and Excitatory Activities on Human NaV1.6

(2018) Mathilde R. Israel et al.   JOURNAL OF MEDICINAL CHEMISTRY

Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases

(2018) Cuiwei Yang et al.   NEUROLOGICAL SCIENCES

Recent advances in epilepsy genetics

(2018) Alessandro Orsini et al.   NEUROSCIENCE LETTERS

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms ofSCN2Aepilepsy

(2018) Géza Berecki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A relatively mild phenotype associated with mutation of SCN8A

(2018) Irene Bagnasco et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy

(2018) Kavitha Kothur et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

(2018) Pin Fee Chong et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome

(2018) Ni Yan et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel

(2018) Christopher N. Johnson et al.   STRUCTURE

Progress in Understanding and Treating SCN2A -Mediated Disorders

(2018) Stephan J. Sanders et al.   TRENDS IN NEUROSCIENCES

Ketogenic diet effects on 52 children with pharmacoresistant epileptic encephalopathy: A clinical prospective study

(2018) Qiong Wu et al.   Brain and Behavior

Epilepsy

(2018) Orrin Devinsky et al.   Nature Reviews Disease Primers

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

(2018) Stephanie Oates et al.   npj Genomic Medicine

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

Electrophysiological characterization of Tityus obscurus β toxin 1 (To1) on Na+-channel isoforms

(2018) Diogo Vieira Tibery et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies

(2018) Anna M. Tiefes et al.   CLINICAL EEG AND NEUROSCIENCE

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome

(2018) Kazuhiro Haginoya et al.   EPILEPSY RESEARCH

The phenotype of SCN8A developmental and epileptic encephalopathy

(2018) Elena Gardella et al.   NEUROLOGY

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

(2018) Richard S. Smith et al.   NEURON

Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death

(2018) Kay L. Richards et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DRAVET SYNDROME IN SOUTH AFRICAN INFANTS: TOOLS FOR AN EARLY DIAGNOSIS

(2018) Alina I. Esterhuizen et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Novel and de novo mutations in pediatric refractory epilepsy

(2018) Jing Liu et al.   Molecular Brain

SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report

(2018) Maya Atanasoska et al.   BIOTECHNOLOGY & BIOTECHNOLOGICAL EQUIPMENT

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

(2018) Yuanyuan Liu et al.   BRAIN

Current Treatment Strategies and Future Treatment Options for Dravet Syndrome

(2018) Julie Ziobro et al.   Current Treatment Options in Neurology

Progress report on new antiepileptic drugs: A summary of the Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV). I. Drugs in preclinical and early clinical development

(2018) Meir Bialer et al.   EPILEPSIA

De novoSCN1Apathogenic variants in the GEFS+ spectrum: Not always a familial syndrome

(2017) Kenneth A. Myers et al.   EPILEPSIA

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

(2017) Kameryn M. Butler et al.   EPILEPSY RESEARCH

Altered gene expression profile in a mouse model of SCN8A encephalopathy

(2017) Ryan S. Sprissler et al.   EXPERIMENTAL NEUROLOGY

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

(2017)   GENETICS IN MEDICINE

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients

(2017) Davide Mei et al.   Molecular Diagnosis & Therapy

SCN3A deficiency associated with increased seizure susceptibility

(2017) Tyra Lamar et al.   NEUROBIOLOGY OF DISEASE

Forty Years of Sodium Channels: Structure, Function, Pharmacology, and Epilepsy

(2017) William A. Catterall   NEUROCHEMICAL RESEARCH

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

(2017) Valentina Cetica et al.   NEUROLOGY

Regulation of Thalamic and Cortical Network Synchrony by Scn8a

(2017) Christopher D. Makinson et al.   NEURON

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel

(2017) Kameryn M. Butler et al.   PEDIATRIC NEUROLOGY

SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers

(2017) Kathleen Mary Gorman et al.   PEDIATRIC NEUROLOGY

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine

(2017) Laura A. Foster et al.   PEDIATRIC NEUROLOGY

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders

(2017) Mari Rossi et al.   PEDIATRIC NEUROLOGY

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases

(2017) Kenneth A. Myers et al.   PEDIATRICS

Structure of a eukaryotic voltage-gated sodium channel at near-atomic resolution

(2017) Huaizong Shen et al.   SCIENCE

Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus

(2017) Zhidong Cen et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels

(2017) Weiyun Huang et al.   Protein & Cell

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

(2017) Yimin Wang et al.   Scientific Reports

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

(2017) Ahmed Arafat et al.   Scientific Reports

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

(2017) Xiaoxu Yang et al.   Scientific Reports

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

(2016) Sarenur Gokben et al.   ACTA NEUROLOGICA BELGICA

Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

(2016) Elena Gardella et al.   ANNALS OF NEUROLOGY

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

(2016) Andrew E. Fry et al.   BMC Medical Genetics

Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol

(2016) Reesha R. Patel et al.   BRAIN

Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes

(2016) Xiu-Yu Shi et al.   BRAIN & DEVELOPMENT

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

(2016) Hussein Daoud et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autosomal dominant SCN8A mutation with an unusually mild phenotype

(2016) G. Anand et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Precision medicine in genetic epilepsies: break of dawn?

(2016) Philipp Sebastian Reif et al.   Expert Review of Neurotherapeutics

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

(2016) Elena Parrini et al.   HUMAN MUTATION

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

(2016) Gabriella A. Horvath et al.   MOLECULAR GENETICS AND METABOLISM

Epigenetic Downregulation of Scn3a Expression by Valproate: a Possible Role in Its Anticonvulsant Activity

(2016) Na-Na Tan et al.   MOLECULAR NEUROBIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment

(2016) Melanie A. McNally et al.   PEDIATRIC NEUROLOGY

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations

(2016) Sunay Usluer et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Role of Sodium Channels in Epilepsy

(2016) David I. Kaplan et al.   Cold Spring Harbor Perspectives in Medicine

Precision medicine in genetic epilepsies: break of dawn?

(2016) Philipp Sebastian Reif et al.   Expert Review of Neurotherapeutics

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome

(2016) J. Hsiao et al.   EBioMedicine

Pitfalls in genetic testing: the story of missedSCN1Amutations

(2016) Tania Djémié et al.   Molecular Genetics & Genomic Medicine

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

(2016) Dennis Lal et al.   PLoS One

De novo R853Q mutation of SCN2A gene and West syndrome

(2015) Debopam Samanta et al.   ACTA NEUROLOGICA BELGICA

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

(2015) Heather E. Olson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and genetic features of acute encephalopathy in children taking theophylline

(2015) Makiko Saitoh et al.   BRAIN & DEVELOPMENT

Electroencephalographic features of patients with SCN1A-positive Dravet syndrome

(2015) Hsiu-Fen Lee et al.   BRAIN & DEVELOPMENT

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet

(2015) Virginia C.N. Wong et al.   BRAIN & DEVELOPMENT

A case of recurrent encephalopathy with SCN2A missense mutation

(2015) Tatsuya Fukasawa et al.   BRAIN & DEVELOPMENT

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Weijing Kong et al.   EPILEPSIA

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

(2015) Bronwyn E. Grinton et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy

(2015) Bianca Berghuis et al.   EPILEPSY RESEARCH

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures

(2015) Makiko Saitoh et al.   EPILEPSY RESEARCH

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

(2015) Andreas Brunklaus et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mosaic mutations in early-onset genetic diseases

(2015) Matt Halvorsen et al.   GENETICS IN MEDICINE

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo”SCN1AMutations in Children with Dravet Syndrome

(2015) Xiaojing Xu et al.   HUMAN MUTATION

The hitchhiker’s guide to the voltage-gated sodium channel galaxy

(2015) Christopher A. Ahern et al.   JOURNAL OF GENERAL PHYSIOLOGY

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

(2015) N. Schwarz et al.   JOURNAL OF NEUROLOGY

Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy

(2015) Karen L. Skjei et al.   Journal of Neurosurgery-Pediatrics

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

(2015) G McMichael et al.   MOLECULAR PSYCHIATRY

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

(2015) Giulia Bechi et al.   NEUROBIOLOGY OF DISEASE

Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome

(2015) Moran Rubinstein et al.   NEUROBIOLOGY OF DISEASE

From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit

(2015) Dorota Hoffman-Zacharska et al.   Neurologia i Neurochirurgia Polska

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

(2015) Ragna S. Boerma et al.   Neurotherapeutics

Incidence of Dravet Syndrome in a US Population

(2015) Y. W. Wu et al.   PEDIATRICS

Electroclinical features of epileptic encephalopathy caused bySCN8Amutation

(2015) Satoru Takahashi et al.   PEDIATRICS INTERNATIONAL

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

(2015) Yujia Zhang et al.   PLoS One

Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation

(2015) R. Singh et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

(2014) D.A. Dyment et al.   CLINICAL GENETICS

Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

(2014) Anna-Lena Baasch et al.   EPILEPSIA

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Co-occurring malformations of cortical development andSCN1Agene mutations

(2014) Carmen Barba et al.   EPILEPSIA

ILAE Official Report: A practical clinical definition of epilepsy

(2014) Robert S. Fisher et al.   EPILEPSIA

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome

(2014) Nathalie Villeneuve et al.   EPILEPSY & BEHAVIOR

When is a child with status epilepticus likely to have Dravet syndrome?

(2014) François Le Gal et al.   EPILEPSY RESEARCH

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

(2014) Carolien G.F. de Kovel et al.   EPILEPSY RESEARCH

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Genotype phenotype associations across the voltage-gated sodium channel family

(2014) Andreas Brunklaus et al.   JOURNAL OF MEDICAL GENETICS

Resurgent current of voltage-gated Na+channels

(2014) Amanda H. Lewis et al.   JOURNAL OF PHYSIOLOGY-LONDON

Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A

(2014) Y.-J. Chen et al.   MOLECULAR NEUROBIOLOGY

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

The hidden genetics of epilepsy—a clinically important new paradigm

(2014) Rhys H. Thomas et al.   Nature Reviews Neurology

Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy

(2014) M.K. Oliva et al.   NEUROBIOLOGY OF DISEASE

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

(2014) Mark Estacion et al.   NEUROBIOLOGY OF DISEASE

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

(2014) Alessandra Baumer et al.   NEUROPEDIATRICS

Genetic Biomarkers in Epilepsy

(2014) Yvonne G. Weber et al.   Neurotherapeutics

Sleep Abnormalities in Children With Dravet Syndrome

(2014) Radhika Dhamija et al.   PEDIATRIC NEUROLOGY

Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome

(2014) C. Tai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolutionarily conserved intracellular gate of voltage-dependent sodium channels

(2014) Kevin Oelstrom et al.   Nature Communications

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

(2013) Xiaojing Xu et al.   BRAIN & DEVELOPMENT

Effects of the antianginal drug, ranolazine, on the brain sodium channel NaV1.2 and its modulation by extracellular protons

(2013) CH Peters et al.   BRITISH JOURNAL OF PHARMACOLOGY

Voltage-gated sodium channels

(2013) Mena Abdelsayed et al.   Channels

Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome

(2013) Christine S Cheah et al.   Channels

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

(2013) Young Ok Kim et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AnSCN2Amutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+current

(2013) Stephan Lauxmann et al.   EPILEPSIA

Divergent effects of the T1174SSCN1Amutation associated with seizures and hemiplegic migraine

(2013) Sandrine Cestèle et al.   EPILEPSIA

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

Role of the sodium channelSCN9Ain genetic epilepsy with febrile seizures plus and Dravet syndrome

(2013) John C. Mulley et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Structure and function of voltage-gated sodium channels at atomic resolution

(2013) William A. Catterall   EXPERIMENTAL PHYSIOLOGY

De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

(2013) Ulvi Vaher et al.   JOURNAL OF CHILD NEUROLOGY

A gating charge interaction required for late slow inactivation of the bacterial sodium channel NavAb

(2013) Tamer M. Gamal El-Din et al.   JOURNAL OF GENERAL PHYSIOLOGY

Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels I: Wild-type skeletal muscle NaV1.4

(2013) Jonathan R. Silva et al.   JOURNAL OF GENERAL PHYSIOLOGY

Domain IV voltage-sensor movement is both sufficient and rate limiting for fast inactivation in sodium channels

(2013) Deborah L. Capes et al.   JOURNAL OF GENERAL PHYSIOLOGY

The Molecular Biology of Genetic-Based Epilepsies

(2013) Hao Deng et al.   MOLECULAR NEUROBIOLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Novel SCN3A variants associated with focal epilepsy in children

(2013) Carlos G. Vanoye et al.   NEUROBIOLOGY OF DISEASE

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

Novel de novo SCN2A Mutation in a Child With Migrating Focal Seizures of Infancy

(2013) Radhika Dhamija et al.   PEDIATRIC NEUROLOGY

Phenytoin Inhibits the Persistent Sodium Current in Neocortical Neurons by Modifying Its Inactivation Properties

(2013) Elisa Colombo et al.   PLoS One

Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study

(2013) Nienke E. Verbeek et al.   PLoS One

Crystallographic insights into sodium-channel modulation by the  4 subunit

(2013) J. Gilchrist et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple pore conformations driven by asynchronous movements of voltage sensors in a eukaryotic sodium channel

(2013) Marcel P. Goldschen-Ohm et al.   Nature Communications

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inhibitory Interneuron Deficit Links Altered Network Activity and Cognitive Dysfunction in Alzheimer Model

(2012) Laure Verret et al.   CELL

Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations

(2012) Jennifer J. Rilstone et al.   EPILEPSIA

Different degrees of loss of function between GEFS+ and SMEI Nav1.1 missense mutants at the same residue induced by rescuable folding defects

(2012) Yoshihiro Sugiura et al.   EPILEPSIA

Mutations of the SCN1A gene in acute encephalopathy

(2012) Makiko Saitoh et al.   EPILEPSIA

Sodium channels and the neurobiology of epilepsy

(2012) Megan Oliva et al.   EPILEPSIA

A thermoprotective role of the sodium channel β1 subunit is lost with the β1(C121W) mutation

(2012) Csilla Egri et al.   EPILEPSIA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation

(2012) Daichi Sone et al.   EPILEPSY & BEHAVIOR

Acute encephalopathy with a novel point mutation in the SCN2A gene

(2012) Katsuhiro Kobayashi et al.   EPILEPSY RESEARCH

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy

(2012) Ji-wen Wang et al.   EPILEPSY RESEARCH

Interaction of Voltage-gated Sodium Channel Nav1.6 (SCN8A) with Microtubule-associated Protein Map1b

(2012) Janelle E. O'Brien et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

The response of NaV1.3 sodium channels to ramp stimuli: multiple components and mechanisms

(2012) Mark Estacion et al.   JOURNAL OF NEUROPHYSIOLOGY

Aberrant sodium channel activity in the complex seizure disorder ofCelf4mutant mice

(2012) Wenzhi Sun et al.   JOURNAL OF PHYSIOLOGY-LONDON

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Crystal structure of an orthologue of the NaChBac voltage-gated sodium channel

(2012) Xu Zhang et al.   NATURE

Crystal structure of a voltage-gated sodium channel in two potentially inactivated states

(2012) Jian Payandeh et al.   NATURE

Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

(2012) Christoph Lossin et al.   NEUROBIOLOGY OF DISEASE

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

(2012) Anna Ka-Yee Kwong et al.   PLoS One

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy

(2011) Gerald Raymond et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene

(2011) Nienke E. Verbeek et al.   EPILEPSIA

Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: A prospective pilot study

(2011) Rima Nabbout et al.   EPILEPSIA

Early clinical features in Dravet syndrome patients with and without SCN1A mutations

(2011) Cristina Petrelli et al.   EPILEPSY RESEARCH

Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

(2011) Linda Volkers et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart

(2011) Sami F. Noujaim et al.   FASEB JOURNAL

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Genotype-phenotype associations in SCN1A-related epilepsies

(2011) S. M. Zuberi et al.   NEUROLOGY

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene

(2011) Iglika Yordanova et al.   NEUROSCIENCE LETTERS

A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family

(2011) Xiukun Cui et al.   NEUROSCIENCE LETTERS

Alleged Cases of Vaccine Encephalopathy Rediagnosed Years Later as Dravet Syndrome

(2011) I. S. Reyes et al.   PEDIATRICS

SCN1A mutational analysis in Korean patients with Dravet syndrome

(2011) Byung Chan Lim et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A

(2011) Marilena Vecchi et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Lidocaine, Carbamazepine, and Imipramine Have Partially Overlapping Binding Sites and Additive Inhibitory Effect on Neuronal Na+ Channels

(2010) Ya-Chin Yang et al.   ANESTHESIOLOGY

Two Novel Mutations in SCN1A Gene in Iranian Patients with Epilepsy

(2010) Ahmad Ebrahimi et al.   ARCHIVES OF MEDICAL RESEARCH

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures

(2010) M Bartnik et al.   CLINICAL GENETICS

SCN9A: another sodium channel excited to play a role in human epilepsies

(2010) CN Doty   CLINICAL GENETICS

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Nav1.1

(2010) Wei-Ping Liao et al.   EPILEPSIA

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

(2010) Sarah E. Heron et al.   EPILEPSIA

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

(2010) Renzo Guerrini et al.   EPILEPSIA

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

(2010) Daniella Nishri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons

(2010) Mark Estacion et al.   EXPERIMENTAL NEUROLOGY

Sodium Channel Carboxyl-terminal Residue Regulates Fast Inactivation

(2010) Hai M. Nguyen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genotype-Phenotype Correlations in a Group of 15 SCN1A-Mutated Italian Patients with GEFS+ Spectrum (Seizures plus, Classical and Borderline Severe Myoclonic Epilepsy of Infancy)

(2010) Francesco Nicita et al.   JOURNAL OF CHILD NEUROLOGY

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome

(2010) Huihui Sun et al.   JOURNAL OF HUMAN GENETICS

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

(2010) Miriam H. Meisler et al.   JOURNAL OF PHYSIOLOGY-LONDON

Milder phenotype with SCN1A truncation mutation other than SMEI

(2010) Mei-Juan Yu et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

(2009) Daria Riva et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early- and late-onset inherited erythromelalgia: genotype–phenotype correlation

(2009) Chongyang Han et al.   BRAIN

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

(2009) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

(2009) Romina Combi et al.   BRAIN RESEARCH BULLETIN

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

(2009)   CLINICAL GENETICS

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy

(2009) Paola Iannetti et al.   EPILEPSY RESEARCH

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels

(2009) Fernanda Laezza et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation

(2009) Wenqin Hu et al.   NATURE NEUROSCIENCE

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

Multiple sodium channel isoforms and mitogen-activated protein kinases are present in painful human neuromas

(2008) Joel A. Black et al.   ANNALS OF NEUROLOGY

Cryptogenic Epileptic Syndromes Related to SCN1A

(2008) Claudio Zucca et al.   ARCHIVES OF NEUROLOGY

Seven novelSCN1Amutations in Chinese patients with severe myoclonic epilepsy of infancy

(2008)   EPILEPSIA

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures

(2008) Sunita N. Misra et al.   EPILEPSIA

Gene therapy in epilepsy

(2008) Véronique Riban et al.   EPILEPSIA

Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases

(2008) Josef Davidsson et al.   EPILEPSY RESEARCH

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS

Differential Block of Sensory Neuronal Voltage-Gated Sodium Channels by Lacosamide [(2R)-2-(Acetylamino)-N-benzyl-3-methoxypropanamide], Lidocaine, and Carbamazepine

(2008) P. L. Sheets et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

(2008) Katherine D. Holland et al.   NEUROSCIENCE LETTERS

Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor

(2008) Lisa M. Sharkey et al.   PARKINSONISM & RELATED DISORDERS