Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E1454K
Back to variants list

SCN1A

NM_001165963.4:p.E1454K

Associated Papers

Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

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

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Walsh R et al.

Journal of Medical Genetics, 2014

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."