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

SCN5A-C683R exhibits combined gain-of-function and loss-of-function properties related to adrenaline-triggered ventricular arrhythmia.

Experimental physiology - 1 Mar 2021

Steinberg Christian, Pilote Sylvie, Philippon François, Laksman Zachary W, Champagne Jean, Simard Chantale, Krahn Andrew D, Drolet Benoît

Abstract excerpt

NEW FINDINGS: What is the role of SCN5A-C683R? SCN5A-C683R is a novel variant associated with an uncommon phenotype of adrenaline-triggered ventricular arrhythmia in the absence of a distinct ECG phenotype. What is the main finding and its importance? Functional studies demonstrated that NaV 1.5/C683R results in a mixed electrophysiological phenotype with gain-of-function (GOF) and loss-of-function (LOF)...

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 Epinephrine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gain of Function Mutation

Share to Mutation

Share to NAV1.5 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 33480457
DOI: 10.1113/EP089088

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

SCN5A-C683R exhibits combined gain-of-function and loss-of-function properties related to adrenaline-triggered ventricular arrhythmia.PMID 33480457Read ↗

Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmiaSemantic proximity Read ↗

SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.Semantic proximity Read ↗

Biophysical Characterization of A Novel <i>SCN5A</i> Mutation Associated with an Atypical Phenotype of Atrial and Ventricular Arrhythmias and Sudden DeathSemantic proximity Read ↗

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillationSemantic proximity Read ↗

Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.Semantic proximity Read ↗

SCN5A channelopathies--an update on mutations and mechanisms.Semantic proximity Read ↗

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.Semantic proximity Read ↗

Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.Semantic proximity Read ↗

A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy.Semantic proximity Read ↗

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.Semantic proximity Read ↗

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.Semantic proximity Read ↗

Multiple arrhythmic and cardiomyopathic phenotypes associated with an SCN5A A735E mutation.Semantic proximity Read ↗

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