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

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

Circulation journal : official journal of the Japanese Circulation Society - 1 May 2008

Nagaoka Iori, Shimizu Wataru, Itoh Hideki, Yamamoto Satoshi, Sakaguchi Tomoko, Oka Yuko, Tsuji Keiko, Ashihara Takashi, Ito Makoto, Yoshida Hidetada, Ohno Seiko, Makiyama Takeru, Miyamoto Yoshihiro, Noda Takashi, Kamakura Shiro, Akao Masaharu, Horie Minoru

Abstract excerpt

BACKGROUND: In the LQT2 form of long QT syndrome (LQTS), mutation sites are reported to correlate with clinical phenotypes in Caucasians, but the relationship in Asian patients remains unknown. The present study was designed to determine whether the location of KCNH2 mutations would influence the arrhythmic risk in LQT2 patients. METHODS AND RESULTS: In 118 genetically-confirmed LQT2 patients (69 families, 62...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease-Free Survival

Share to Family Health

Share to Gene Deletion

Share to Long QT Syndrome

Share to Mutation, Missense

Share to Torsades de Pointes

Source

Identifiers

PMID: 18441445
DOI: 10.1253/circj.72.694

Genes

KCNH2

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

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.PMID 18441445Read ↗

Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.Semantic proximity Read ↗

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

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

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.Semantic proximity Read ↗

Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.Semantic proximity Read ↗

Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers With Normal QTc Interval: The Value of Sex, T-Wave Morphology, and Mutation Type.Semantic proximity Read ↗

Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndromeSemantic proximity Read ↗

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.Semantic proximity Read ↗

Pediatric Cohort With Long QT Syndrome - KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms.Semantic proximity Read ↗

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

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences.Semantic proximity Read ↗

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.Semantic proximity Read ↗

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