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 and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome.

Clinical science (London, England : 1979) - 1 Apr 2003

Yamaguchi Masato, Shimizu Masami, Ino Hidekazu, Terai Hidenobu, Hayashi Kenshi, Mabuchi Hiroshi, Hoshi Naoto, Higashida Haruhiro

Abstract excerpt

KCNQ1 is a gene encoding an alpha subunit of voltage-gated cardiac K(+) channels, with properties similar to the slowly activating delayed rectifier K(+) current, and one of the genes causing long QT syndrome (LQTS). However, genotype-phenotype correlations of the KCNQ1 gene mutations are not fully understood. The aims of this study were to identify a mutation in the KCNQ1 gene in patients with LQTS, and to...

Read the complete abstract on PubMed

Topics

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

Share to Electrophysiology
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 Potassium Channels

Share to Potassium Channels, Voltage-Gated

Share to Sequence Homology

Share to Xenopus laevis

Source

Identifiers

PMID: 12653681
DOI: 10.1042/CS20020152

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome.PMID 12653681Read ↗

Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.Semantic proximity Read ↗

Current concepts in long QT syndrome.Semantic proximity Read ↗

Dominant-Negative <i>KvLQT1</i> Mutations Underlie the LQT1 Form of Long QT SyndromeSemantic proximity Read ↗

Functional effects of mutations in KvLQT1 that cause long QT syndrome.Semantic proximity Read ↗

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.Semantic proximity Read ↗

KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.Semantic proximity Read ↗

A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.Semantic proximity Read ↗

Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome.Semantic proximity Read ↗

Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.Semantic proximity Read ↗

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.Semantic proximity Read ↗

Exploring single nucleotide polymorphisms in the KCNQ1 gene associated with cardiac disordersSemantic proximity Read ↗

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

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