Associated Papers
Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy.
Dabla PK et al.
World Journal of Psychiatry, 2025
An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus.
Li L 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
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Kluckova D et al.
Scientific Reports, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 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
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Two novel SCN1A mutations identified in families with familial hemiplegic migraine.
Weller CM et al.
Cephalalgia : an International Journal of Headache, 2014
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
Thompson CH et al.
The Journal of Biological Chemistry, 2012
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
Freilich ER et al.
Archives of Neurology, 2011
Dravet syndrome: insights from in vitro experimental models.
Mantegazza M
Epilepsia, 2011
Ranolazine selectively blocks persistent current evoked by epilepsy-associated Naν1.1 mutations.
Kahlig KM et al.
British Journal of Pharmacology, 2010
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Ohmori I et al.
Epilepsia, 2006
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.
Vanoye CG et al.
The Journal of General Physiology, 2006
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
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
Kanai K et al.
Neurology, 2004
Persistent sodium current and its role in epilepsy.
Stafstrom CE
Epilepsy Currents, 0
Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
Groome JR et al.
Channels (austin, Tex.), 0