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

Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Clinical genetics - 1 Apr 2018

Abou Ziki M D, Seidelmann S B, Smith E, Atteya G, Jiang Y, Fernandes R G, Marieb M A, Akar J G, Mani A

Abstract excerpt

BACKGROUND: Long QT syndrome (LQT) is a pro-arrhythmogenic condition with life-threatening complications. Fifteen genes have been associated with congenital LQT, however, the genetic causes remain unknown in more than 20% of cases. MATERIALS AND METHODS: Eighteen patients with history of palpitations, pre-syncope, syncope and prolonged QT were referred to the Yale Cardiovascular Genetics Program. All subjects...

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmias, Cardiac
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Gene Frequency

Share to Genetic Testing

Share to Long QT Syndrome

Share to Pedigree

Share to Syncope

Source

Open in PubMed Open full text

Identifiers

PMID: 28407228
DOI: 10.1111/cge.13036
PMCID: PMC5640462

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.PMID 28407228Read ↗

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.Semantic proximity Read ↗

Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review.Semantic proximity Read ↗

The long QT syndrome family of cardiac ion channelopathies: a HuGE review.Semantic proximity Read ↗

Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease.Semantic proximity Read ↗

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.Semantic proximity Read ↗

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.Semantic proximity Read ↗

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.Semantic proximity Read ↗

Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy.Semantic proximity Read ↗

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.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 ↗

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

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 ↗

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