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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565861/
https://www.ncbi.nlm.nih.gov/pubmed/31231430
http://dx.doi.org/10.3389/fgene.2019.00547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565861/
https://www.ncbi.nlm.nih.gov/pubmed/31231430
http://dx.doi.org/10.3389/fgene.2019.00547

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