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Article

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

Journal of the American College of Cardiology - 25 Aug 2009

Nishio Yukiko, Makiyama Takeru, Itoh Hideki, Sakaguchi Tomoko, Ohno Seiko, Gong Yin-Zhi, Yamamoto Satoshi, Ozawa Tomoya, Ding Wei-Guang, Toyoda Futoshi, Kawamura Mihoko, Akao Masaharu, Matsuura Hiroshi, Kimura Takeshi, Kita Toru, Horie Minoru

Abstract excerpt

OBJECTIVES: This study aims to address whether D85N, a KCNE1 polymorphism, is a gene variant that causes long QT syndrome (LQTS) phenotype. BACKGROUND: KCNE1 encodes the beta-subunit of cardiac voltage-gated K(+) channels and causes LQTS, which is characterized by the prolongation of the QT interval and torsades de pointes, a lethal arrhythmia. D85N, a KCNE1 polymorphism, is known to be a functional variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19695459
DOI: 10.1016/j.jacc.2009.06.005

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.PMID 19695459Read ↗

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