Article
Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2012
Henrion Ulrike, Zumhagen Sven, Steinke Katja, Strutz-Seebohm Nathalie, Stallmeyer Birgit, Lang Florian, Schulze-Bahr Eric, Seebohm Guiscard
Abstract excerpt
BACKGROUND: Cardiac action potential repolarisation is determined by K(+) currents including I(Ks). I(Ks) channels are heteromeric channels composed of KCNQ1 and KCNE E-subunits. Mutations in KCNQ1 are associated with sinus bradycardia, familial atrial fibrillation (fAF) and/or short QT syndrome as a result of gain-of-function, and long QT syndrome (LQTS) due to loss-of-function in the ventricles. Here, we report...
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