Associated Papers
Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy.
Dabla PK et al.
World Journal of Psychiatry, 2025
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.
Chen W et al.
The Journal of Clinical Investigation, 2021
Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.
Pan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Ion Channel Functions in Early Brain Development.
Smith RS et al.
Trends in Neurosciences, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
Saitoh M et al.
Epilepsy Research, 2015
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
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
Thompson CH et al.
The Journal of Biological Chemistry, 2012
Dravet syndrome: insights from in vitro experimental models.
Mantegazza M
Epilepsia, 2011
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
Liao WP et al.
Epilepsia, 2010
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
Sodium channel mutations in epilepsy and other neurological disorders.
Meisler MH et al.
The Journal of Clinical Investigation, 2005
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.
Rhodes TH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004