LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current

AIMS: KCNE1 encodes an auxiliary subunit of cardiac potassium channels. Loss-of-function variations in this gene have been associated with the LQT5 form of the long QT syndrome (LQTS), secondary to reduction of I(Ks) current. We present a case in which a D85N rare polymorphism in KCNE1 is associated...

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Bibliographic Details
Main Authors: Nof, Eyal, Barajas-Martinez, Hector, Eldar, Michael, Urrutia, Janire, Caceres, Gabriel, Rosenfeld, Gail, Bar-Lev, David, Feinberg, Micha, Burashnikov, Elena, Casis, Oscar, Hu, Dan, Glikson, Michael, Antzelevitch, Charles
Format: Artigo
Language:Inglês
Published: Oxford University Press 2011
Subjects:
Clinical Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3180238/
https://ncbi.nlm.nih.gov/pubmed/21712262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/europace/eur184
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