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Article

KCNQ1 gene mutations and the respective genotype-phenotype correlations in the long QT syndrome.

Medical science monitor : international medical journal of experimental and clinical research - 1 Oct 2002

Herbert Ernest, Trusz-Gluza Maria, Moric Ewa, Smiłowska-Dzielicka Ewa, Mazurek Urszula, Wilczok Tadeusz

Abstract excerpt

KCNQ1 (formerly called KVLQT1) is a Shaker-like voltage-gated potassium channel gene responsible for the LQT1 sub-type of LQTS. In general, heterozygous mutations in KCNQ1 cause Romano-Ward syndrome (LQT1 only), while homozygous mutations cause JLNS (LQT1 and deafness). To date, more than 100 families with mutations in this gene have been reported, most with their own novel 'private' mutations. The majority of...

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Identifiers

PMID: 12388934

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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