Associated Papers
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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group
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
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Chen YJ et al.
Molecular Neurobiology, 2015
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 mutations in Indonesian patients with severe myoclonic epilepsy in infancy.
Herini ES et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Ohmori I et al.
Epilepsia, 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
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