Associated Papers
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.
Corradi A et al.
Neurology. Genetics, 2026
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 2021
Starting stiripentol in adults with Dravet syndrome? Watch for ammonia and carnitine.
Zulfiqar Ali Q et al.
Epilepsia, 2020
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
Miao P et al.
Molecular Genetics & Genomic Medicine, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.
Pan X et al.
Science (new York, N.y.), 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL et al.
Epilepsia, 2014
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Wang JW et al.
Epilepsy Research, 2012
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
Lossin C et al.
Neurobiology of Disease, 2012
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.
Tavyev Asher YJ et al.
European Journal of Medical Genetics, 2012
Dravet syndrome: insights from in vitro experimental models.
Mantegazza M
Epilepsia, 2011
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
Shi X et al.
Brain & Development, 2009
[Omega pore, an alternative ion channel permeation pathway involved in the development of several channelopathies].
Moreau A et al.
Medecine Sciences : M/s, 0
Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations.
Mason ER et al.
Eneuro, 0