Article
Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome.
Cardiology - 1 Jan 2022
Mikhailova Valeria B, Karpushev Alexey V, Vavilova Viola D, Klimenko Ekaterina S, Tulintseva Tatyana, Yudina Yulia S, Vasichkina Elena S, Zhorov Boris S, Kostareva Anna
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is a rare inherited cardiac arrhythmia with increased risk of sudden cardiac death. Mutations in gene SCN5A, which encodes the α-subunit of cardiac voltage-gated sodium channel NaV1.5, have been identified in over 20% of patients with BrS. However, only a small...
Topics
- Brugada Syndrome
- Humans
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel