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Article

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

The Journal of clinical investigation - 1 Aug 2002

Tristani-Firouzi Martin, Jensen Judy L, Donaldson Matthew R, Sansone Valeria, Meola Giovanni, Hahn Angelika, Bendahhou Said, Kwiecinski Hubert, Fidzianska Anna, Plaster Nikki, Fu Ying-Hui, Ptacek Louis J, Tawil Rabi

Abstract excerpt

Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. In this report, we characterized the functional consequences of three novel and seven previously described KCNJ2...

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Share to Arrhythmias, Cardiac
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Long QT Syndrome

Share to Paralyses, Familial Periodic

Share to Potassium Channels, Inwardly Rectifying

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Source

Open in PubMed Open full text

Identifiers

PMID: 12163457
DOI: 10.1172/JCI15183
PMCID: PMC151085

Genes

KCNJ2

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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