Article
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
International journal of molecular sciences - 17 Jun 2021
Balla Cristina, Conte Elena, Selvatici Rita, Marsano Renè Massimiliano, Gerbino Andrea, Farnè Marianna, Blunck Rikard, Vitali Francesco, Armaroli Annarita, Brieda Alessandro, Liantonio Antonella, De Luca Annamaria, Ferlini Alessandra, Rapezzi Claudio, Bertini Matteo, Gualandi Francesca, Imbrici Paola
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is an autosomal dominantly inherited cardiac disease characterized by "coved type" ST-segment elevation in the right precordial leads, high susceptibility to ventricular arrhythmia and a family history of sudden cardiac death. The SCN5A gene, encoding for the cardiac voltage-gated sodium channel Nav1.5, accounts for ~20-30% of BrS cases and is considered clinically relevant....
Topics
- Action Potentials
- Aged
- Aged, 80 and over
- Alleles
- Amino Acid Substitution
- Brugada Syndrome
- Electrocardiography
- Female
- Genetic Association Studies