Anthony Frosio, Emanuele Micaglio, Ivan Polsinelli, Serena Calamaio, Dario Melgari, Rachele Prevostini, Andrea Ghiroldi, Anna Binda, Paola Carrera, Marco Villa, Flavio Mastrocinque, Silvia Presi, Raffaele Salerno, Antonio Boccellino, Luigi Anastasia, Giuseppe Ciconte, Stefano Ricagno, Carlo Pappone, Ilaria Rivolta
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 conducted to mutations in the SCN5A gene, which encodes for the Nav1.5 sodium channel. Our study focused on three novel SCN5A mutations (p...
October 11, 2023: International Journal of Molecular Sciences