Associated Papers
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Kobayashi Takahashi Y et al.
Epilepsia Open, 2025
40530598 (PubMed )
Supplement: EPI4-10-1236-s001.docx
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM et al.
Journal of Medical Genetics, 2019
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
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS et al.
Molecular Syndromology, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T et al.
Molecular Genetics & Genomic Medicine, 2016
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