Browsing Scholarly Works, Fralin Biomedical Research Institute at VTC by Author "Ackerman, Michael J."
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A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased Ca(V)1.2 Channel Window Current, and Arrhythmogenesis
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. (PLOS, 2014-09-03)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 ...