Article
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
International journal of molecular sciences - 23 Nov 2023
Tarantino Adriana, Ciconte Giuseppe, Ghiroldi Andrea, Mastrocinque Flavio, Micaglio Emanuele, Boccellino Antonio, Negro Gabriele, Piccoli Marco, Cirillo Federica, Vicedomini Gabriele, Santinelli Vincenzo, Anastasia Luigi, Pappone Carlo
Abstract excerpt
Brugada Syndrome (BrS) is a genetic heart condition linked to sudden cardiac death. Though the SCN5A gene is primarily associated with BrS, there is a lack of comprehensive studies exploring the connection between SCN5A mutation locations and the clinical presentations of the syndrome. This study...
Topics
- Humans
- Brugada Syndrome
- Mutation
- Phenotype
- Death, Sudden, Cardiac
- Heart
- NAV1.5 Voltage-Gated Sodium Channel