Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.D1416H
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SCN1A

NM_001165963.4:p.D1416H

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

Dysarthria and broader motor speech deficits in Dravet syndrome.

Turner SJ et al.

Neurology, 2017

SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

Do TT et al.

Journal of Clinical Neurology (seoul, Korea), 2017

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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."