Associated Papers
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
39932319 (PubMed )
Supplement: EPI-66-e66-s002.xlsx › Supplementary_Data_1
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
Dysarthria and broader motor speech deficits in Dravet syndrome.
Turner SJ et al.
Neurology, 2017
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H et al.
Journal of Human Genetics, 2010
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
Sun H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy].
Zhang YH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA et al.
Brain : a Journal of Neurology, 2007
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