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Article

Phenotype reveals genotype in a Greek long QT syndrome family.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Apr 2006

Anastasakis Aris, Kotta Christina-Maria, Kyriakogonas Stavros, Wollnik Bernd, Theopistou Artemisia, Stefanadis Christodoulos

Abstract excerpt

We aimed to verify the long QT syndrome (LQTS) genotype in a family with strong evidence of LQTS type 1 (LQT1) on the basis of so far established genotype-phenotype correlations. Genetic testing for mutations in the KCNQ1 potassium channel gene revealed an A341V mutation in three generations of the family. Existing genotype-phenotype correlations were correctly predictive of the genotype in the case of this...

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Source

Identifiers

PMID: 16627448
DOI: 10.1093/europace/eul012

Genes

KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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