Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.W1726*
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SCN1A

NM_001165963.4:p.W1726*

Associated Papers

Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.

Torbati PN et al.

Pediatric Neurology, 2026

SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.

Stawicka E et al.

Current Issues in Molecular Biology, 2024

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Ko YJ et al.

Journal of Epilepsy Research, 2021

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

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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."