R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation

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...

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Main Authors: 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.
Format: Artigo
Language:Inglês
Published: 2010
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3706092/
https://ncbi.nlm.nih.gov/pubmed/20850564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2010.09.010
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