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

Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State

5 Oct 2020

Abstract excerpt

Background Na v 1.5, which is encoded by the SCN5A gene, is the predominant voltage-gated Na + channel in the heart. Several mutations of this gene have been identified and reported to be involved in several cardiac rhythm disorders, including type 3 long QT interval syndrome, that can cause sudden cardiac death. We analyzed the biophysical properties of 2 novel variants of the Na v 1.5 channel (Q1491H and...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Ion channel regulation and function
Share to Nicotinic Acetylcholine Receptors Study

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33778442
DOI: 10.1016/j.cjco.2020.09.023

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation StatePMID 33778442Read ↗

Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.Semantic proximity Read ↗

Dysfunctional Nav1.5 channels due to SCN5A mutations.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 ↗

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

Cardiac Sodium Channel Mutations: Why so Many Phenotypes?Semantic proximity Read ↗

Biology of cardiac sodium channel Nav1.5 expression.Semantic proximity Read ↗

Cardiac sodium channel dysfunction in sudden infant death syndrome.Semantic proximity Read ↗

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

Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.Semantic proximity Read ↗

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

Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.Semantic proximity Read ↗

Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.Semantic proximity Read ↗

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