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

Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation.

Heart rhythm - 1 Apr 2011

Winbo Annika, Diamant Ulla-Britt, Rydberg Annika, Persson Johan, Jensen Steen M, Stattin Eva-Lena

Abstract excerpt

BACKGROUND: The Y111C/KCNQ1 mutation causes a dominant-negative effect in vitro but a benign clinical phenotype in a Swedish long QT syndrome population. OBJECTIVE: The purpose of this study was to investigate the origin (genealogic, geographic, genetic, and age) of the Y111C/KCNQ1 mutation in Sw...

Read the complete abstract on PubMed

Topics

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

Share to Death, Sudden, Cardiac
Share to Follow-Up Studies
Share to Incidence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to KCNQ1 Potassium Channel

Share to Mutation, Missense

Share to Romano-Ward Syndrome

Share to Survival Rate

Share to Sweden

Source

Identifiers

PMID: 21129503
DOI: 10.1016/j.hrthm.2010.11.043

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21129503-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation.PMID 21129503Read ↗

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.Semantic proximity Read ↗

To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.Semantic proximity Read ↗

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.Semantic proximity Read ↗

The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.Semantic proximity Read ↗

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.Semantic proximity Read ↗

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.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 ↗

Identification of a SCN5A founder mutation causing sudden death, Brugada syndrome, and conduction blocks in Southern Italy.Semantic proximity Read ↗

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.Semantic proximity Read ↗

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.Semantic proximity Read ↗

Novel mutations of KCNQ1 in Long QT syndrome.Semantic proximity Read ↗

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.Semantic proximity Read ↗

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