Article
SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility.
PloS one - 1 Jan 2012
van Hoorn Frans, Campian Maria E, Spijkerboer Anje, Blom Marieke T, Planken R Nils, van Rossum Albert C, de Bakker Jacques M T, Wilde Arthur A M, Groenink Maarten, Tan Hanno L
Abstract excerpt
BACKGROUND: The cardiac sodium channel (Na(v)1.5) controls cardiac excitability. Accordingly, SCN5A mutations that result in loss-of-function of Na(v)1.5 are associated with various inherited arrhythmia syndromes that revolve around reduced cardiac excitability, most notably Brugada syndrome (BrS). Experimental studies have indicated that Na(v)1.5 interacts with the cytoskeleton and may also be involved in...
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