Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.H1393Q
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SCN1A

NM_001165963.4:p.H1393Q

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

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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."