Associated Papers
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
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
Graifman JL et al.
Epilepsia, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 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
33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf
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
30765605 (PubMed )
Supplement: aaw2999-pan-sm.pdf
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
30813884 (PubMed )
Supplement: 10020_2019_73_MOESM1_ESM.docx
Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.
Huang Q et al.
Medicine, 2019
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S et al.
Human Mutation, 2018
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
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Confirming an expanded spectrum of SCN2A mutations: a case series.
Matalon D et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2014
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
Lauxmann S et al.
Epilepsia, 2013
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