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

A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope.

Heart rhythm - 1 Nov 2008

Christé Georges, Thériault Olivier, Chahine Mohamed, Millat Gilles, Rodriguez-Lafrasse Claire, Rousson Robert, Deschênes Isabelle, Ficker Eckhard, Chevalier Philippe

Abstract excerpt

BACKGROUND: A novel mutation of hERG (A915fs+47X) was discovered in a 32-year-old woman with torsades de pointes, long QTc interval (515 ms), and syncope upon auditory trigger. OBJECTIVE: We explored whether the properties of this mutation could explain the pathology. METHODS: Whole-cell A915fs+47X (del) and wild-type (WT) currents were recorded in transiently transfected COS7 cells or Xenopus oocytes. Western...

Read the complete abstract on PubMed

Topics

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

Share to ERG1 Potassium Channel
Share to Ether-A-Go-Go Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Long QT Syndrome

Share to Mutation

Share to Syncope

Share to Torsades de Pointes

Source

Open in PubMed Open full text

Identifiers

PMID: 18984536
DOI: 10.1016/j.hrthm.2008.08.031
PMCID: PMC2602805

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

A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope.PMID 18984536Read ↗

Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.Semantic proximity Read ↗

Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.Semantic proximity Read ↗

The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.Semantic proximity Read ↗

Functional characterization of the LQT2-causing mutation R582C and the associated voltage-dependent fluorescence signal.Semantic proximity Read ↗

Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome.Semantic proximity Read ↗

Novel mechanism of HERG current suppression in LQT2: shift in voltage dependence of HERG inactivation.Semantic proximity Read ↗

Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype.Semantic proximity Read ↗

In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant.Semantic proximity Read ↗

A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.Semantic proximity Read ↗

Molecular basis of slow activation of the human ether-a-go-go related gene potassium channel.Semantic proximity Read ↗

Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.Semantic proximity Read ↗

Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2Semantic proximity Read ↗

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