Article
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.
Journal of medical genetics - 1 Aug 2006
Lu C-W, Lin J-H, Rajawat Y S, Jerng H, Rami T G, Sanchez X, DeFreitas G, Carabello B, DeMayo F, Kearney D L, Miller G, Li H, Pfaffinger P J, Bowles N E, Khoury D S, Towbin J A
Abstract excerpt
BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. This study sought to analyse KCNJ2 in patients with familial ATS and to determine the functional characteristics of the mutated gene. METHODS AND...
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