Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.I1850_A1851del2
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SCN1A

NM_001165963.4:p.I1850_A1851del2

Associated Papers

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability.

Dell'Isola GB et al.

Epilepsia Open, 2026

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN et al.

Epilepsy Research, 2018

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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."