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Article

Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome.

Journal of cardiology - 1 Apr 2018

Fukumoto Daisuke, Ding Wei-Guang, Wada Yuko, Fujii Yusuke, Ichikawa Mari, Takayama Koichiro, Fukuyama Megumi, Kato Koichi, Itoh Hideki, Makiyama Takeru, Omatsu-Kanbe Mariko, Matsuura Hiroshi, Horie Minoru, Ohno Seiko

Abstract excerpt

BACKGROUND: Missense mutations in KCNH2, a gene encoding the Kv11.1 channel, cause long QT syndrome (LQTS) type 2 primarily by disrupting the intracellular transport of Kv11.1 to the plasma membrane. The present study aimed to clarify the functional changes by two novel KCNH2 missense mutations. METHODS: We performed genetic screening of three unrelated symptomatic LQTS probands with family histories of cardiac...

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Source

Identifiers

PMID: 29146210
DOI: 10.1016/j.jjcc.2017.10.004

Genes

KCNH2

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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