Browsing by Subject "Sodium channel mutation"

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    Cardiac Sodium Channel Nav1.5 Mutations and Cardiac Arrhythmia
    (Springer, 2012) Song, Weihua; Shou, Weinian; Pediatrics, School of Medicine
    As a major cardiac voltage-gated sodium channel isoform in the heart, the Nav1.5 channel is essential for cardiac action potential initiation and subsequent propagation throughout the heart. Mutations of Nav1.5 have been linked to a variety of cardiac diseases such as long QT syndrome (LQTs), Brugada syndrome, cardiac conduction defect, atrial fibrillation, and dilated cardiomyopathy. The mutagenesis approach and heterologous expression systems are most frequently used to study the function of this channel. This review focuses primarily on recent findings of Nav1.5 mutations associated with type 3 long QT syndrome (LQT3) in particular. Understanding the functional changes of the Nav1.5 mutation may offer critical insight into the mechanism of long QT3 syndrome. In addition, this review provides the updated information on the current progress of using various experimental model systems to study primarily the long QT3 syndrome.