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Article

KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

BMC medical genetics - 18 Jan 2011

Lahtinen Annukka M, Marjamaa Annukka, Swan Heikki, Kontula Kimmo

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) is an inherited ion channel disorder manifesting with prolongation of the cardiac repolarization phase and severe ventricular arrhythmias. The common KCNE1 D85N potassium channel variant prolongs QT interval by inhibiting IKs (KCNQ1) and IKr (KCNH2) currents an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21244686
DOI: 10.1186/1471-2350-12-11
PMCID: PMC3032654

Genes

KCNQ1
KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21244686-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?PMID 21244686Read ↗

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.Semantic proximity Read ↗

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KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Semantic proximity Read ↗

Common candidate gene variants are associated with QT interval duration in the general population.Semantic proximity Read ↗

Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact.Semantic proximity Read ↗

Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.Semantic proximity Read ↗

Age- and Sex-Related Differences in Clinical Manifestations in Patients With Congenital Long-QT SyndromeSemantic proximity Read ↗

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

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.Semantic proximity Read ↗

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?Semantic proximity Read ↗

Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome.Semantic proximity Read ↗

Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.Semantic proximity Read ↗

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