Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

Brugada syndrome (BrS) is a known cause of sudden cardiac death. The genetic basis of BrS is not well understood, and no one single gene is linked to even a majority of BrS cases. However, mutations in the gene SCN5A are the most common, although the high amount of phenotypic variability prevents a...

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Bibliographic Details
Main Authors: Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Sara Benedetti, Chiara Di Resta, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Marco Piccoli, Luigi Anastasia, Vincenzo Santinelli, Maurizio Ferrari, Carlo Pappone
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Physiology
Subjects:
Brugada syndrome
sudden cardiac death
genetic testing
arrhythmia
SCN5A
sodium channel
Online Access:https://www.frontiersin.org/article/10.3389/fphys.2019.00666/full

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