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Article

Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.

PloS one - 1 Jan 2024

Owusu-Mensah Anthony, Treat Jacqueline, Bernardi Joyce, Pfeiffer Ryan, Goodrow Robert, Tsevi Bright, Lam Victoria, Audette Michel, Cordeiro Jonathan M, Deo Makarand

Abstract excerpt

We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl. The two KCNH2 mutations were transiently transfected into either human embryonic kidney (HEK) cells or human induced pluripotent stem-cell derived cardiomyocytes. We performed...

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Identifiers

PMID: 38181028
DOI: 10.1371/journal.pone.0287206
PMCID: PMC10769013

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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