Article

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

2002-08-01

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 mutations...

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Literature Corpus work: 7c182721-92e9-578d-8c87-01d15b4a2622
DOI: 10.1172/jci200215183

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