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

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Annals of medicine - 1 Jan 2004

Fodstad Heidi, Swan Heikki, Laitinen Päivi, Piippo Kirsi, Paavonen Kristian, Viitasalo Matti, Toivonen Lauri, Kontula Kimmo

Abstract excerpt

BACKGROUND: Mutations in five cardiac voltage-gated ion channel genes, including KCNQ1, HERG, SCN5A, KCNE1 and KCNE2, constitute the principal cause of inherited long-QT syndrome (LQTS). Typically, each family carries its own private mutation, and the disease manifests with varying phenotype and incomplete penetrance, even within particular families. We had previously identified 14 different LOTS-causing...

Read the complete abstract on PubMed

Topics

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

Share to Ether-A-Go-Go Potassium Channels
Share to KCNQ Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to KCNQ1 Potassium Channel

Share to Long QT Syndrome

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Potassium Channels

Share to Potassium Channels, Voltage-Gated

Share to Sodium Channels

Source

Identifiers

PMID: 15176425
DOI: 10.1080/17431380410032689

Genes

KCNQ1

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.PMID 15176425Read ↗

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.Semantic proximity Read ↗

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.Semantic proximity Read ↗

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.Semantic proximity Read ↗

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.Semantic proximity Read ↗

Spectrum of genetic variants detected in children tested for long QT syndrome.Semantic proximity Read ↗

The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.Semantic proximity Read ↗

Genetic homozygosity in a diverse population: An experience of long QT syndrome.Semantic proximity Read ↗

High prevalence of four long QT syndrome founder mutations in the Finnish population.Semantic proximity Read ↗

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.Semantic proximity Read ↗

Cardiac ion channel gene mutations in Greek long QT syndrome patients.Semantic proximity Read ↗

Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.Semantic proximity Read ↗

Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.Semantic proximity Read ↗

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