Associated Papers
Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework.
Zhang G et al.
Frontiers in Neuroscience, 2025
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
Luiza Benevides M et al.
Epilepsy & Behavior : E&b, 2024
Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.
Pan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
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
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
Freilich ER et al.
Archives of Neurology, 2011
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C et al.
Epilepsia, 2007
Select a paper to view details