Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.W191C
Back to variants list

SCN2A

NM_001040142.2:p.W191C

Associated Papers

Functional analysis of a novel de novo SCN2A variant in a patient with seizures refractory to oxcarbazepine.

Hu X et al.

Frontiers in Molecular Neuroscience, 2023

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Crawford K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.

Su DJ et al.

Brain & Development, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."