Associated Papers
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Hamanaka K et al.
Npj Genomic Medicine, 2025
Allele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.
Yu W et al.
Annals of Neurology, 2024
Molecular and cellular context influences SCN8A variant function.
Vanoye CG et al.
Jci Insight, 2024
Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2023
Cryo-EM structure of human voltage-gated sodium channel Nav1.6.
Fan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
Johannesen KM et al.
Brain : a Journal of Neurology, 2022
A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
Liu Y et al.
Epilepsy Research, 2021
SCN8A Encephalopathy: Case Report and Literature Review.
Fan HC et al.
Neurology International, 2021
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 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
Trafficking mechanisms underlying Nav channel subcellular localization in neurons.
Solé L et al.
Channels (austin, Tex.), 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Denis J et al.
Epilepsia, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Wagnon JL et al.
Annals of Clinical and Translational Neurology, 2016
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 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
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
de Kovel CG et al.
Epilepsy Research, 2014
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.
O'Brien JE et al.
Frontiers in Genetics, 2013