Associated Papers
Distinct neuronal mechanisms for motor impairment and seizures in a novel mouse model of SCN8A epileptic encephalopathy.
Anne MNK et al.
Neurobiology of Disease, 2026
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB et al.
Biology Open, 2024
Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.
Fang H et al.
Frontiers in Neurology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
Peng BW et al.
Brain : a Journal of Neurology, 2022
NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats.
Johnson JP et al.
Elife, 2022
A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.
Keshri S et al.
Acta Bio-medica : Atenei Parmensis, 2022
SCN8A Encephalopathy: Case Report and Literature Review.
Fan HC et al.
Neurology International, 2021
R1617Q epilepsy mutation slows NaV 1.6 sodium channel inactivation and increases the persistent current and neuronal firing.
Poulin H et al.
The Journal of Physiology, 2021
Sodium channelopathies in neurodevelopmental disorders.
Meisler MH et al.
Nature Reviews. Neuroscience, 2021
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 2021
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.
Solé L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Distinct functional alterations in SCN8A epilepsy mutant channels.
Pan Y et al.
The Journal of Physiology, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Xie H et al.
Epilepsy Research, 2019
Early mortality in SCN8A-related epilepsies.
Johannesen KM et al.
Epilepsy Research, 2018
Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.
Ye M et al.
Scientific Reports, 2018
Early-onset epileptic encephalopathy with de novo SCN8A mutation.
Xiao Y et al.
Epilepsy Research, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Butler KM et al.
Epilepsy Research, 2017
SCN8A encephalopathy: Research progress and prospects.
Meisler MH et al.
Epilepsia, 2016
Role of Sodium Channels in Epilepsy.
Kaplan DI et al.
Cold Spring Harbor Perspectives in Medicine, 2016
Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.
Takahashi S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.
Galanopoulou AS et al.
Neurobiology of Disease, 2015
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Blanchard MG et al.
Journal of Medical Genetics, 2015
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
Wagnon JL et al.
Frontiers in Neurology, 2015
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
Estacion M et al.
Neurobiology of Disease, 2014