Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.N275S
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SCN1A

NM_001165963.4:p.N275S

Associated Papers

Biallelic SCN1A variants with divergent epilepsy phenotypes.

Pentz R et al.

Seizure, 2025

The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.

Dinoi G et al.

Biomedicines, 2024

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Marco Hernández AV et al.

Frontiers in Neurology, 2021

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