Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.N275K
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SCN1A

NM_001165963.4:p.N275K

Associated Papers

Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.

Chen C et al.

Frontiers in Molecular Neuroscience, 2022

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.

Kim YO et al.

Developmental Medicine and Child Neurology, 2014

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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."