Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.W1812*
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SCN1A

NM_001165963.4:p.W1812*

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

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Gallagher D et al.

Epilepsia, 2024

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

Early clinical features in Dravet syndrome patients with and without SCN1A mutations.

Petrelli C et al.

Epilepsy Research, 2012

A catalog of SCN1A variants.

Lossin C

Brain & Development, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."