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Article

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

Biochimica et biophysica acta - 5 Nov 2004

Zehelein J, Thomas D, Khalil M, Wimmer A-B, Koenen M, Licka M, Wu K, Kiehn J, Brockmeier K, Kreye V A W, Karle C A, Katus H A, Ulmer H E, Schoels W

Abstract excerpt

Romano-Ward syndrome (RWS), the autosomal dominant form of the congenital long QT syndrome, is characterised by prolongation of the cardiac repolarisation process associated with ventricular tachyarrhythmias of the torsades de pointes type. Genetic studies have identified mutations in six ion channel genes, KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 and the accessory protein Ankyrin-B gene, to be responsible for this...

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Source

Identifiers

PMID: 15511625
DOI: 10.1016/j.bbadis.2004.06.024

Genes

KCNQ1
KCNH2

Variants

Provenance

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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