Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V223G
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SCN5A

NM_000335.5:p.V223G

Associated Papers

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.

Anderson CL et al.

The Journal of Biological Chemistry, 2026

Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death.

Soh MS et al.

Epilepsia, 2022

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Chahal CAA et al.

Journal of the American Heart Association, 2020

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Bleakley LE et al.

Frontiers in Neurology, 2020

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Bagnall RD et al.

Annals of Neurology, 2016

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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."