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Article

A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.

Heart rhythm - 1 Apr 2010

Kanovsky Jan, Novotny Tomas, Kadlecova Jitka, Gaillyova Renata

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Share to Defibrillators, Implantable
Share to KCNQ1 gene
Share to KCNQ1 Potassium Channel
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20138589
DOI: 10.1016/j.hrthm.2009.11.034

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.PMID 20138589Read ↗

New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity.Semantic proximity Read ↗

KCNE1 mutations cause Jervell and Lange-Nielsen syndromeSemantic proximity Read ↗

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.Semantic proximity Read ↗

[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].Semantic proximity Read ↗

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward SyndromeSemantic proximity Read ↗

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.Semantic proximity Read ↗

An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.Semantic proximity Read ↗

Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.Semantic proximity Read ↗

Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.Semantic proximity Read ↗

Mutation in KCNQ1 that has both recessive and dominant characteristics.Semantic proximity Read ↗

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.Semantic proximity Read ↗

MODY in China: two families carrying the KCNJ11 E229K variant.Semantic proximity Read ↗

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