Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].

Zeitschrift fur Kardiologie - 1 May 2002

Mönnig G, Schulze-Bahr E, Wedekind H, Eckardt L, Kirchhof P, Funke H, Kotthoff S, Vogt J, Assmann G, Breithardt G, Haverkamp W

Abstract excerpt

In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autosomal recessive inherited disease characterized by QT-prolongation in the electrocardiogram (ECG) and recurrent syncopal attacks which are also typical for the R-W syndrome, but also by congenital deafness. Recently, defect alleles in the genes for KCNQ1 and KCNE1 have been identified in patients with the J-LN...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Prognosis
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to KCNQ Potassium Channels

Share to KCNQ1 Potassium Channel

Share to Long QT Syndrome

Share to Mutation, Missense

Share to Potassium Channels

Share to Potassium Channels, Voltage-Gated

Source

Identifiers

PMID: 12132284
DOI: 10.1007/s00392-002-0789-z

Genes

KCNQ1

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].PMID 12132284Read ↗

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

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

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.Semantic proximity Read ↗

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

Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.Semantic proximity Read ↗

[The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome].Semantic proximity Read ↗

Genetic and clinical advances in congenital long QT syndrome.Semantic proximity Read ↗

[Congenital long QT syndromes].Semantic proximity Read ↗

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

Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family.Semantic 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 ↗

[Present concepts of congenital long QT syndrome].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.