Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs*221) in a single copy of the SCN5A gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular arrhythmia successfully treated with DC-shock and...

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Bibliographic Details
Main Authors: Emanuele Micaglio, Michelle M. Monasky, Giuseppe Ciconte, Gabriele Vicedomini, Manuel Conti, Valerio Mecarocci, Luigi Giannelli, Federica Giordano, Alberto Pollina, Massimo Saviano, Paolo R. Pozzi, Chiara Di Resta, Sara Benedetti, Maurizio Ferrari, Vincenzo Santinelli, Carlo Pappone
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Genetics
Subjects:
Brugada syndrome
sudden cardiac death
genetic testing
mutation
SCN5A
sodium channel
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00547/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00547/full

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