Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.P282delFs
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SCN1A

NM_001165963.4:p.P282delFs

Associated Papers

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

Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Lee J et al.

Molecular Genetics & Genomic Medicine, 2020

Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.

Lee J et al.

Annals of Clinical and Laboratory Science, 2020

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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."