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 an...

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Veröffentlicht in:Front Genet
Hauptverfasser: Micaglio, Emanuele, Monasky, Michelle M., Ciconte, Giuseppe, Vicedomini, Gabriele, Conti, Manuel, Mecarocci, Valerio, Giannelli, Luigi, Giordano, Federica, Pollina, Alberto, Saviano, Massimo, Pozzi, Paolo R., Di Resta, Chiara, Benedetti, Sara, Ferrari, Maurizio, Santinelli, Vincenzo, Pappone, Carlo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
Schlagworte:
Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565861/
https://ncbi.nlm.nih.gov/pubmed/31231430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00547
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