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Article

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Heart rhythm - 1 Sept 2009

Kapplinger Jamie D, Tester David J, Salisbury Benjamin A, Carr Janet L, Harris-Kerr Carole, Pollevick Guido D, Wilde Arthur A M, Ackerman Michael J

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to translation and now clinical implementation. OBJECTIVES: Here we examine the spectrum and prevalence of mutations found in the first 2,500 unrelated cases referred for the FAMILION LQTS clinical genetic test. METHODS: Retrospective analysis of the first 2,500...

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Source

Open in PubMed Open full text

Identifiers

PMID: 19716085
DOI: 10.1016/j.hrthm.2009.05.021
PMCID: PMC3049907

Genes

KCNH2
KCNQ1

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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