Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.M909K
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SCN1A

NM_001165963.4:p.M909K

Associated Papers

Magnetic resonance imaging findings in SCN1A-related epilepsies and Dravet syndrome: A systematic review.

Falsitta LV et al.

Epilepsia, 2025

Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.

Ahangar AA et al.

Biorxiv : the Preprint Server for Biology, 2023

37781633 (PubMed )
Supplement: media-1.pdf

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Ademuwagun IA et al.

Frontiers in Neurology, 2021

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.

Kluckova D et al.

Scientific Reports, 2020

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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."