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Article

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

Circulation - 16 Mar 1999

Chen Q, Zhang D, Gingell R L, Moss A J, Napolitano C, Priori S G, Schwartz P J, Kehoe E, Robinson J L, Schulze-Bahr E, Wang Q, Towbin J A

Abstract excerpt

BACKGROUND: Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozygous mutations in 3 potassium channel genes, KVLQT1, KCNE1 (minK), and HERG, and the cardiac...

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PMID: 10077519
DOI: 10.1161/01.cir.99.10.1344

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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