Associated Papers
Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.
Ahangar AA et al.
Biorxiv : the Preprint Server for Biology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.
Bechi G et al.
Neurobiology of Disease, 2015
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Chen YJ et al.
Molecular Neurobiology, 2015
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects.
Sugiura Y et al.
Epilepsia, 2012
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Escayg A et al.
Epilepsia, 2010
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
Genetic etiology of new forms of familial epilepsy.
Wang X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Phenotypes and genotypes in epilepsy with febrile seizures plus.
Ito M et al.
Epilepsy Research, 2006
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.
Barela AJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
Nagao Y et al.
Epilepsy Research, 2005
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
Lossin C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2003
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
Sugawara T et al.
Neurology, 2001