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

doi:10.1093/europace/eur184

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Article

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

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Oct 2011

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

Abstract excerpt

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 with an LQT2 phenotype. METHODS AND RESULTS: An 11-year old competitive athlete presented with mild bradycardia and...

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Identifiers

PMID: 21712262
DOI: 10.1093/europace/eur184
PMCID: PMC3180238

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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