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Article

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

Journal of the American College of Cardiology - 1 Feb 2001

Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, Toivonen L, Kontula K

Abstract excerpt

OBJECTIVES: We took advantage of the genetic isolate of Finns to characterize a common long QT syndrome (LQTS) mutation, and to estimate the prevalence of LQTS. BACKGROUND: The LQTS is caused by mutations in different ion channel genes, which vary in their molecular nature from family to family. METHODS: The potassium channel gene KCNQ1 was sequenced in two unrelated Finnish patients with Jervell and...

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Source

Identifiers

PMID: 11216980
DOI: 10.1016/s0735-1097(00)01124-4

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.

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A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.PMID 11216980Read ↗

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

Exploring single nucleotide polymorphisms in the KCNQ1 gene associated with cardiac disordersSemantic proximity Read ↗

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

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Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns.Semantic proximity Read ↗

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