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Article

KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.

Heart rhythm - 1 Mar 2007

Eckhardt Lee L, Farley Amanda L, Rodriguez Esther, Ruwaldt Karen, Hammill Daniel, Tester David J, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

BACKGROUND: Loss-of-function mutations in the KCNJ2 cause approximately 50% of Andersen-Tawil Syndrome (ATS) characterized by a classic triad of periodic paralysis, ventricular arrhythmia, and dysmorphic features. Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS? OBJECTIVES: The purpose of this study was to identify and characterize mutations in the KCNJ2-encoded inward...

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Topics

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Share to Arrhythmias, Cardiac
Share to Electrophysiologic Techniques, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Incidence

Share to Long QT Syndrome

Share to Mutation, Missense

Share to Potassium Channels, Inwardly Rectifying

Share to Ryanodine Receptor Calcium Release Channel

Share to Tachycardia, Ventricular

Source

Open in PubMed Open full text

Identifiers

PMID: 17341397
DOI: 10.1016/j.hrthm.2006.10.025
PMCID: PMC1868697

Genes

KCNJ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.PMID 17341397Read ↗

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