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

An NGS-based genotyping in LQTS; minor genes are no longer minor.

Journal of human genetics - 1 Dec 2020

Ohno Seiko, Ozawa Junichi, Fukuyama Megumi, Makiyama Takeru, Horie Minoru

Abstract excerpt

Mutations in KCNQ1, KCNH2, and SCN5A are the major cause of long QT syndrome (LQTS). More than 90% of the genotyped patients have been reported to carry mutations in any of these three genes. Thanks to increasing popularity of next generation sequencer (NGS), novel CACNA1C mutations have been identified among LQTS patients without extra-cardiac phenotypes. We aimed to clarify the frequency of genotypes in LQTS...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels, L-Type
Share to ERG1 Potassium Channel
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to KCNQ1 Potassium Channel

Share to Long QT Syndrome

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 32681117
DOI: 10.1038/s10038-020-0805-z

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

An NGS-based genotyping in LQTS; minor genes are no longer minor.PMID 32681117Read ↗

Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.Semantic proximity Read ↗

Clinical Impact of Genetic Testing for Long QT Syndrome - Evidence From a Nationwide LQTS Registry in Japan.Semantic proximity Read ↗

Clinical and genetic diagnosis for inherited cardiac arrhythmias.Semantic proximity Read ↗

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.Semantic proximity Read ↗

First report of genetic variants detected in Argentinian patients with clinical Long QT Syndrome diagnosisSemantic proximity Read ↗

Genetics of long QT syndrome.Semantic proximity Read ↗

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

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.Semantic proximity Read ↗

The genetics underlying acquired long QT syndrome: impact for genetic screening.Semantic proximity Read ↗

Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.Semantic proximity Read ↗

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.Semantic proximity Read ↗

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.Semantic proximity Read ↗

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