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Article

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.

Circulation - 14 Feb 2006

Schwartz Peter J, Spazzolini Carla, Crotti Lia, Bathen Jørn, Amlie Jan P, Timothy Katherine, Shkolnikova Maria, Berul Charles I, Bitner-Glindzicz Maria, Toivonen Lauri, Horie Minoru, Schulze-Bahr Eric, Denjoy Isabelle

Abstract excerpt

BACKGROUND: Data on the Jervell and Lange-Nielsen syndrome (J-LN), the long-QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the I(Ks) current, are still based largely on case reports. METHODS AND RESULTS: We analyzed data from 186 J-LN patients obtained from the literature (31%) and from individual...

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Identifiers

PMID: 16461811
DOI: 10.1161/CIRCULATIONAHA.105.592899

Genes

KCNQ1

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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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