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

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.

Expert reviews in molecular medicine - 3 May 2023

Jiang Congshan, Zhang Yanmin

Abstract excerpt

Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an extremely rare disease affecting early life with devastating arrhythmia. In this work, firstly, the various mutations in causative gene CACNA1C encoding cardiac L-type voltage-gated calcium channel (LTCC), regard with the genetic pathogeny...

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 Autistic Disorder
Share to Cardiac electrophysiology and arrhythmias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion channel regulation and function

Share to Long QT Syndrome

Share to Mutation

Share to Nicotinic Acetylcholine Receptors Study

Share to Syndactyly

Source

Open in PubMed Open full text

Identifiers

PMID: 37132248
DOI: 10.1017/erm.2023.11
PMCID: PMC10407238

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

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.PMID 37132248Read ↗

CACNA1C-Related Channelopathies.Semantic proximity Read ↗

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementSemantic proximity Read ↗

Congenital long QT syndrome: a clinician's guide.Semantic proximity Read ↗

A Natural History Study of Timothy Syndrome.Semantic proximity Read ↗

Inherited ion channel diseases: a brief review.Semantic proximity Read ↗

Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.Semantic proximity Read ↗

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.Semantic proximity Read ↗

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.Semantic proximity Read ↗

Andersen-Tawil Syndrome: A Comprehensive Review.Semantic proximity Read ↗

Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.Semantic proximity Read ↗

Cardiac channelopathies: genetic and molecular mechanisms.Semantic proximity Read ↗

Cardiac Conduction Disorders Due to Acquired or Genetic Causes in Young Adults: A Review of the Current Literature.Semantic proximity Read ↗

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