Article
Cardiac sodium channel mutations: why so many phenotypes?
Nature reviews. Cardiology - 1 Oct 2014
Liu Man, Yang Kai-Chien, Dudley Samuel C
Abstract excerpt
Mutations of the cardiac sodium channel (Nav1.5) can induce gain or loss of channel function. Gain-of-function mutations can cause long QT syndrome type 3 and possibly atrial fibrillation, whereas loss-of-function mutations are associated with a variety of phenotypes, such as Brugada syndrome, cardiac conduction disease, sick sinus syndrome, and possibly dilated cardiomyopathy. The phenotypes produced by Nav1.5...
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