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Article

A Common Mutation of Long QT Syndrome Type 1 in Japan.

Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2015

Itoh Hideki, Dochi Kenichi, Shimizu Wataru, Denjoy Isabelle, Ohno Seiko, Aiba Takeshi, Kimura Hiromi, Kato Koichi, Fukuyama Megumi, Hasagawa Kanae, Schulze-Bahr Eric, Guicheney Pascale, Horie Minoru

Abstract excerpt

BACKGROUND: Previous studies of long QT syndrome (LQTS) have revealed the presence of country-specific hot spots in KCNQ1 mutations, and the purpose of this study was to evaluate the influence of a common mutation on clinical phenotypes in Japanese LQT1 patients. METHODS AND RESULTS: We retrospectively studied the frequency of each mutation in 190 LQT1 Japanese probands and evaluated the clinical severity of LQT1...

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Source

Identifiers

PMID: 26118460
DOI: 10.1253/circj.CJ-15-0342

Genes

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.

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