Article
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.
Heart rhythm - 1 Jan 2011
Bartos Daniel C, Duchatelet Sabine, Burgess Don E, Klug Didier, Denjoy Isabelle, Peat Rachel, Lupoglazoff Jean-Marc, Fressart Véronique, Berthet Myriam, Ackerman Michael J, January Craig T, Guicheney Pascale, Delisle Brian P
Abstract excerpt
BACKGROUND: Loss-of-function mutations in the gene KCNQ1 encoding the Kv7.1 K(+) channel cause long QT syndrome type 1 (LQT1), whereas gain-of-function mutations are associated with short QT syndrome as well as familial atrial fibrillation (FAF). However, KCNQ1 mutation pleiotropy, which is capable of expressing both LQT1 and FAF, has not been demonstrated for a discrete KCNQ1 mutation. The genotype-phenotype...
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