Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.S128Splc
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SCN1A

NM_001165963.4:p.S128Splc

Associated Papers

Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.

Luiza Benevides M et al.

Epilepsy & Behavior : E&b, 2024

Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.

Wang JY et al.

Frontiers in Molecular Neuroscience, 2022

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

SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features.

Selmer KK et al.

Epilepsy & Behavior : E&b, 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."