Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.
Chen C et al.
Frontiers in Molecular Neuroscience, 2022
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 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
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H et al.
Journal of Human Genetics, 2010
[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
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