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

The spectrum of intermediate SCN 8A ‐related epilepsy

(2019) Katrine M. Johannesen et al.   EPILEPSIA

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

(2018) Jacy L. Wagnon et al.   HUMAN MUTATION

The phenotype of SCN8A developmental and epileptic encephalopathy

(2018) Elena Gardella et al.   NEUROLOGY

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

(2018) Rosie K A Bunton-Stasyshyn et al.   BRAIN

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

(2018) Yuanyuan Liu et al.   BRAIN

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

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

Mutations in GABRB3

(2017) Rikke S. Møller et al.   NEUROLOGY

Voltage-gated sodium channels assemble and gate as dimers

(2017) Jérôme Clatot et al.   Nature Communications

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

(2017) Cèlia Sintas et al.   Scientific Reports

BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

(2016) Karit Reinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

(2016) Elena Gardella et al.   ANNALS OF NEUROLOGY

SCN8Aencephalopathy: Research progress and prospects

(2016) Miriam H. Meisler et al.   EPILEPSIA

Autosomal dominant SCN8A mutation with an unusually mild phenotype

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

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

(2016) Monkol Lek et al.   NATURE

The incidence ofSCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

(2015) Allan Bayat et al.   EPILEPSIA

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

(2015) Bianca Berghuis et al.   EPILEPSY RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

(2013) Janelle E. O'Brien et al.   Frontiers in 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