Article
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.
Heart rhythm - 1 Jul 2011
Giudicessi John R, Ye Dan, Tester David J, Crotti Lia, Mugione Alessandra, Nesterenko Vladislav V, Albertson Richard M, Antzelevitch Charles, Schwartz Peter J, Ackerman Michael J
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is a sudden death-predisposing genetic condition characterized electrocardiographically by ST segment elevation in the leads V(1)-V(3). Given the prominent role of the transient outward current (I(to)) in BrS pathogenesis, we hypothesized that rare gain-of-function mutations in KCND3 may serve as a pathogenic substrate for BrS. METHODS: Comprehensive mutational analysis of...
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