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Article

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

Cardiovascular research - 1 Sept 2001

Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A

Abstract excerpt

OBJECTIVE: Jervell and Lange-Nielsen syndrome (JLNS) is a recessively inherited long QT syndrome (LQTS) characterised by profound sensorineural deafness and predisposition to syncope and sudden cardiac death. Mutation analysis has established the presence of mutations in affected individuals in the genes KCNQ1 and KCNE1: the potassium channel complex responsible for the cardiac I(Ks) current involved in...

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Source

Identifiers

PMID: 11530100
DOI: 10.1016/s0008-6363(01)00350-9

Genes

KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.Semantic proximity Read ↗

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