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Article

A challenge for mutation specific risk stratification in long QT syndrome type 1.

Journal of cardiology - 1 Jul 2018

Yagi Noriaki, Itoh Hideki, Hisamatsu Takashi, Tomita Yukinori, Kimura Hiromi, Fujii Yusuke, Makiyama Takeru, Horie Minoru, Ohno Seiko

Abstract excerpt

BACKGROUND: The relationship between mutation locations in KCNQ1 which is a major gene in long QT syndrome (LQTS) and phenotype has been analyzed and used for risk stratification. Mutations in the transmembrane region (TM) or cytoplasmic-loop (C-loop) are associated with more frequent cardiac events than those in other regions. However, accumulation of LQTS type 1 (LQT1) patients poses the question of whether the...

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Source

Identifiers

PMID: 29439887
DOI: 10.1016/j.jjcc.2017.12.011

Genes

KCNQ1

Variants

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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