Article
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
International journal of molecular sciences - 11 Oct 2023
Frosio Anthony, Micaglio Emanuele, Polsinelli Ivan, Calamaio Serena, Melgari Dario, Prevostini Rachele, Ghiroldi Andrea, Binda Anna, Carrera Paola, Villa Marco, Mastrocinque Flavio, Presi Silvia, Salerno Raffaele, Boccellino Antonio, Anastasia Luigi, Ciconte Giuseppe, Ricagno Stefano, Pappone Carlo, Rivolta Ilaria
Abstract excerpt
Brugada Syndrome (BrS) is a rare inherited cardiac arrhythmia causing potentially fatal ventricular tachycardia or fibrillation, mainly occurring during rest or sleep in young individuals without heart structural issues. It increases the risk of sudden cardiac death, and its characteristic feature is an abnormal ST segment elevation on the ECG. While BrS has diverse genetic origins, a subset of cases can be...
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