A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ 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 sequencing...

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Bibliographic Details
Main Authors: Jessica A Hennessey, Nicole J Boczek, Yong-Hui Jiang, Joelle D Miller, William Patrick, Ryan Pfeiffer, Brittan S Sutphin, David J Tester, Hector Barajas-Martinez, Michael J Ackerman, Charles Antzelevitch, Ronald Kanter, Geoffrey S Pitt
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4153713?pdf=render

Internet

http://europepmc.org/articles/PMC4153713?pdf=render

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