A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased Ca(V)1.2 Channel Window Current, and Arrhythmogenesis

Mutations in CACNA1C that increase current through the Ca(V)1.2 L-type Ca(2+) channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS). We identified a variant in CACNA1C in a male child of Filipino descent with arrhythmias and extracardiac features by candidate gene sequenc...

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Detalles Bibliográficos
Autores principales: Hennessey, Jessica A., Boczek, Nicole J., Jiang, Yong-Hui, Miller, Joelle D., Patrick, William, Pfeiffer, Ryan, Sutphin, Brittan S., Tester, David J., Barajas-Martinez, Hector, Ackerman, Michael J., Antzelevitch, Charles, Kanter, Ronald, Pitt, Geoffrey S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4153713/
https://www.ncbi.nlm.nih.gov/pubmed/25184293
http://dx.doi.org/10.1371/journal.pone.0106982

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