Article
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
Circulation research - 13 Apr 2001
Abriel H, Cabo C, Wehrens X H, Rivolta I, Motoike H K, Memmi M, Napolitano C, Priori S G, Kass R S
Abstract excerpt
Variant 3 of the congenital long-QT syndrome (LQTS-3) is caused by mutations in the gene encoding the alpha subunit of the cardiac Na(+) channel. In the present study, we report a novel LQTS-3 mutation, E1295K (EK), and describe its functional consequences when expressed in HEK293 cells. The clinical phenotype of the proband indicated QT interval prolongation in the absence of T-wave morphological abnormalities...
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