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Article

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

Circulation research - 19 Feb 1999

Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, Shkolnikova M, Pesce R, Chevalier P, Hainque B, Coumel P, Schwartz K, Guicheney P

Abstract excerpt

The voltage-gated K+ channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear. Mutations in the human KCNQ1 gene encoding the alpha subunit of the KVLQT1 channel cause the long-QT syndrome (LQTS). The autosomal dominant form of this cardiac disease, the Romano-Ward syndrome, is characterized by a prolongation of the QT interval, ventricular...

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Identifiers

PMID: 10024302
DOI: 10.1161/01.res.84.3.290

Genes

KCNQ1

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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.

Related research

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Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.PMID 10024302Read ↗

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Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndromeSemantic proximity Read ↗

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.Semantic proximity Read ↗

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.Semantic proximity Read ↗

The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.Semantic proximity Read ↗

Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.Semantic proximity Read ↗

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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.Semantic proximity Read ↗

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