Article
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.
Heart rhythm - 1 Mar 2014
Bartos Daniel C, Giudicessi John R, Tester David J, Ackerman Michael J, Ohno Seiko, Horie Minoru, Gollob Michael H, Burgess Don E, Delisle Brian P
Abstract excerpt
BACKGROUND: Type 1 long QT syndrome (LQT1) is caused by loss-of-function mutations in the KCNQ1-encoded Kv7.1 channel that conducts the slowly activating component of the delayed rectifier K(+) current (IKs). Clinically, the diagnosis of LQT1 is complicated by variable phenotypic expressivity, whereby approximately 25% of genotype-positive individuals present with concealed LQT1 (resting corrected QT [QTc]...
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