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IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.

Human molecular genetics - 1 Nov 1997

Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor J F, Bathen J, Aslaksen B, Sørland S J, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M

Abstract excerpt

The Jervell and Lange-Nielsen syndrome (JLNS) comprises profound congenital sensorineural deafness associated with syncopal episodes. These are caused by ventricular arrhythmias secondary to abnormal repolarisation, manifested by a prolonged QT interval on the electrocardiogram. Recently, in families with JLNS, Neyroud et al. reported homozygosity for a single mutation in KVLQT1 , a gene which has previously been...

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PMID: 9328483
DOI: 10.1093/hmg/6.12.2179

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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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IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.PMID 9328483Read ↗

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.Semantic proximity Read ↗

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.Semantic proximity Read ↗

Jervell and Lange-Nielsen syndrome: A Norwegian perspectiveSemantic proximity Read ↗

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.Semantic proximity Read ↗

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.Semantic proximity Read ↗

Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness.Semantic proximity Read ↗

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndromeSemantic proximity Read ↗

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

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

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