Associated Papers
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.
Dong R et al.
Journal of Human Genetics, 2024
Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Johannesen KM et al.
Epilepsia, 2020
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
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
Electroencephalographic features of patients with SCN1A-positive Dravet syndrome.
Lee HF et al.
Brain & Development, 2015
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