Related Experiment Video
Updated: Jul 12, 2026
10:23
Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus
Jack F G Underwood1, Katherine W Timothy2, Holly Tyroll3
1Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK. underwoodj4@cardiff.ac.uk.
European Journal of Human Genetics : EJHG
|July 9, 2026
Summary
New guidelines define CACNA1C-Related Disorder and classical Timothy syndrome, standardizing diagnosis and care for individuals with CACNA1C gene variants. This improves management and outcomes for this rare genetic disorder.
Area of Science:
- Genetics
- Cardiology
- Neurology
Background:
- Timothy syndrome is a genetic disorder caused by CACNA1C gene variants, affecting the Ca v 1.2 calcium channel.
- It classically presents with cardiac arrhythmias, neurodevelopmental issues, and physical anomalies.
- Increasingly, variants present with atypical or incomplete phenotypes, lacking standardized terminology.
Purpose of the Study:
- To establish formal diagnostic guidelines for CACNA1C-related conditions.
- To delineate classical Timothy syndrome from broader CACNA1C-Related Disorder.
- To define standards of clinical care for affected individuals.
Main Methods:
- International expert panel convened.
- Delphi consensus methodology employed.
- Input from the CACNA1C community integrated.
Main Results:
- Formalized language and definitions for CACNA1C-Related Disorder.
- Reasserted and demarcated the classical Timothy syndrome phenotype.
- Established minimum expected standards of clinical care.
Conclusions:
- Standardized diagnostic criteria and terminology are crucial for accurate identification and management.
- Defined care standards aim to improve long-term outcomes for individuals with Timothy syndrome and CACNA1C-Related Disorder.
- Co-produced guidelines facilitate better clinical care and research for CACNA1C-related conditions.
More Related Videos
05:32High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
05:56Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
Related Concept Videos
01:27Language and Cognition
Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
01:24Cystic Fibrosis: Management
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Sinus disease and chronic sinusitis...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...