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 of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation - 15 May 2007

Moss Arthur J, Shimizu Wataru, Wilde Arthur A M, Towbin Jeffrey A, Zareba Wojciech, Robinson Jennifer L, Qi Ming, Vincent G Michael, Ackerman Michael J, Kaufman Elizabeth S, Hofman Nynke, Seth Rahul, Kamakura Shiro, Miyamoto Yoshihiro, Goldenberg Ilan, Andrews Mark L, McNitt Scott

Abstract excerpt

BACKGROUND: Type-1 long-QT syndrome (LQTS) is caused by loss-of-function mutations in the KCNQ1-encoded I(Ks) cardiac potassium channel. We evaluated the effect of location, coding type, and biophysical function of KCNQ1 mutations on the clinical phenotype of this disorder. METHODS AND RESULTS: We investigated the clinical course in 600 patients with 77 different KCNQ1 mutations in 101 proband-identified families...

Read the complete abstract on PubMed

Topics

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

Share to Adrenergic beta-Antagonists
Share to Death, Sudden, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Arrest

Share to Ion Transport

Share to KCNQ1 Potassium Channel

Share to Potassium

Share to Romano-Ward Syndrome

Share to Syncope

Source

Open in PubMed Open full text

Identifiers

PMID: 17470695
DOI: 10.1161/CIRCULATIONAHA.106.665406
PMCID: PMC3332528

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.PMID 17470695Read ↗

Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.Semantic proximity Read ↗

Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.Semantic proximity Read ↗

Genotype-phenotype aspects of type 2 long QT syndrome.Semantic proximity Read ↗

Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.Semantic proximity Read ↗

Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.Semantic proximity Read ↗

Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesisSemantic proximity Read ↗

Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.Semantic proximity Read ↗

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia RiskSemantic proximity Read ↗

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.Semantic proximity Read ↗

Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants.Semantic proximity Read ↗

Mutations in Conserved Amino Acids in the KCNQ1 Channel and Risk of Cardiac Events in Type‐1 Long‐QT SyndromeSemantic proximity Read ↗

Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.Semantic proximity Read ↗

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