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

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

Heart rhythm - 1 Aug 2018

Lane Conor M, Giudicessi John R, Ye Dan, Tester David J, Rohatgi Ram K, Bos J Martijn, Ackerman Michael J

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) genetic test reports commonly exclude potentially proarrhythmic common variants such as p.Asp85Asn-KCNE1. OBJECTIVE: The purpose of this study was to determine whether a discernible phenotype is associated with p.Asp85Asn-KCNE1 and whether relatively common KCNE1 variants underlie transient QT prolongation pedigrees with negative commercial LQTS genetic tests. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Electrocardiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Follow-Up Studies

Share to Genetic Testing

Share to Heterozygote

Share to Long QT Syndrome

Share to Potassium Channels, Voltage-Gated

Source

Open in PubMed Open full text

Identifiers

PMID: 29625280
DOI: 10.1016/j.hrthm.2018.03.038
PMCID: PMC6402333

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.PMID 29625280Read ↗

Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.Semantic proximity Read ↗

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?Semantic proximity Read ↗

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.Semantic proximity Read ↗

KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?Semantic proximity Read ↗

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

Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel disease.Semantic proximity Read ↗

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

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

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.Semantic proximity Read ↗

Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.Semantic proximity Read ↗

Diagnosis, management and therapeutic strategies for congenital long QT syndrome.Semantic proximity Read ↗

The long QT syndrome: ion channel diseases of the heart.Semantic proximity Read ↗

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