Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Y1460C
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SCN1A

NM_001165963.4:p.Y1460C

Associated Papers

NaV1.1 contributes to the cell cycle of human mesenchymal stem cells by regulating AKT and CDK2.

Zakaria MF et al.

Journal of Cell Science, 2024

39258309 (PubMed )
Supplement: joces-137-261732_review_history.pdf

De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy.

Plumereau Q et al.

Scientific Reports, 2022

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