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Article

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.

Cardiovascular research - 15 Mar 2012

Hattori Tetsuhisa, Makiyama Takeru, Akao Masaharu, Ehara Eiji, Ohno Seiko, Iguchi Moritake, Nishio Yukiko, Sasaki Kenichi, Itoh Hideki, Yokode Masayuki, Kita Toru, Horie Minoru, Kimura Takeshi

Abstract excerpt

AIMS: Short-QT syndrome (SQTS) is a recently recognized disorder associated with atrial fibrillation (AF) and sudden death due to ventricular arrhythmias. Mutations in several ion channel genes have been linked to SQTS; however, the mechanism remains unclear. This study describes a novel heterozygous gain-of-function mutation in the inward rectifier potassium channel gene, KCNJ2, identified in SQTS. METHODS AND...

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Identifiers

PMID: 22155372
DOI: 10.1093/cvr/cvr329

Genes

KCNJ2

Variants

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