CACNA1C
The information for this summary of CACNA1C-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full CACNA1C Gene Guide
The online Gene Guide includes more information about CACNA1C such as the chance of having another child with this condition, behavior and development concerns linked to CACNA1C-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
CACNA1C-related syndrome is also called Brugada syndrome, long QT syndrome, and Timothy syndrome. For this webpage, we will be using the name CACNA1C-related syndrome to encompass the wide range of variants observed in the people identified.
What is CACNA1C-related syndrome?
CACNA1C-related syndrome happens when there are changes in the CACNA1C gene. These changes can keep the gene from working as it should.
Key Role
The CACNA1C gene plays an important role in brain cell communication and muscle contraction. It also plays a role in the heart, lungs, and smooth muscle.
Symptoms
Because the CACNA1C gene is important for brain activity, many people who have CACNA1C-related syndrome have:
- Developmental delay
- Impaired intellectual development
- Low muscle tone
- Autism
- Aggression
- Speech issues
- Seizures
- Walking and movement issues
- Vision issues
- Heart structure or function problems
How many people have CACNA1C-related syndrome?
As of 2024, at least 100 people with CACNA1C-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – CACNA1C Facebook group
- Geisinger Developmental Brain Disorder Gene Database – CACNA1C
- Timothy Syndrome Alliance
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
Check out the GeneReviews for CACNA1C.
Research Article Summaries
We currently do not have any article summaries for CACNA1C, but we add resources to our website as they become available.
The information available about CACNA1C is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CACNA1C articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about CACNA1C genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
Family Stories
We do not currently have any stories from CACNA1C families.
Click here to share your family’s story!