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Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na(+) channel blocking pharmacotherapy for de novo conduction disease

BACKGROUND: The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na(+) channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic...

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Detalles Bibliográficos
Autores principales: Liu, Jie, Bayer, Jason D., Aschar-Sobbi, Roozbeh, Wauchop, Marianne, Spears, Danna, Gollob, Michael, Vigmond, Edward J., Tsushima, Robert, Backx, Peter H., Chauhan, Vijay S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965851/
https://www.ncbi.nlm.nih.gov/pubmed/29791480
http://dx.doi.org/10.1371/journal.pone.0197273