E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms

Inheritable and de novo variants in the cardiac voltage-gated sodium channel, Nav1.5, are responsible for both long-QT syndrome type 3 (LQT3) and Brugada syndrome type 1 (BrS1). Interestingly, a subset of Nav1.5 variants can cause both LQT3 and BrS1. Many of these variants are found in channel struc...

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Detalles Bibliográficos
Autores principales: Peters, Colin H., Watkins, Abeline R., Poirier, Olivia L., Ruben, Peter C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478868/
https://www.ncbi.nlm.nih.gov/pubmed/32569350
http://dx.doi.org/10.1085/jgp.202012595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478868/
https://www.ncbi.nlm.nih.gov/pubmed/32569350
http://dx.doi.org/10.1085/jgp.202012595

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