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 novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.

Physiological genomics - 3 Sept 2002

Rivolta Ilaria, Clancy Colleen E, Tateyama Michihiro, Liu Huajun, Priori Silvia G, Kass Robert S

Abstract excerpt

Mutations in the gene (SCN5A) encoding the alpha-subunit of the cardiac Na+ channel cause congenital long QT syndrome (LQT-3). Here we describe a novel LQT-3 mutation I1768V (I1768V) located in the sixth transmembrane spanning segment of domain IV. This mutation is unusual in that it is located within a transmembrane spanning domain and does not promote the typically observed sustained inward current...

Read the complete abstract on PubMed

Topics

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

Share to Long QT Syndrome
Share to Membrane Potentials

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Patch-Clamp Techniques

Share to Sodium Channels

Share to Syncope

Share to Tachycardia, Ventricular

Share to Tetrodotoxin

Source

Identifiers

PMID: 12209021
DOI: 10.1152/physiolgenomics.00039.2002

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 novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.PMID 12209021Read ↗

A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.Semantic proximity Read ↗

A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics.Semantic proximity Read ↗

Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndromeSemantic proximity Read ↗

Two Distinct Congenital Arrhythmias Evoked by a Multidysfunctional Na <sup>+</sup> ChannelSemantic proximity Read ↗

Non-equilibrium gating in cardiac Na+ channels: an original mechanism of arrhythmia.Semantic proximity Read ↗

Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels.Semantic proximity Read ↗

Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndrome.Semantic proximity Read ↗

Characterization of human cardiac Na <sup>+</sup> channel mutations in the congenital long QT syndromeSemantic proximity Read ↗

E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms.Semantic proximity Read ↗

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

Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.Semantic proximity Read ↗

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