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

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 (I(Ks)). Clinically, the diagnosis of LQT1 is complicated by variable phenotypic expressivity, whe...

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Bibliografiska uppgifter
I publikationen:Heart Rhythm
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333640/
https://ncbi.nlm.nih.gov/pubmed/24269949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2013.11.021
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