Below is a summary for the CACNA1C gene observed in research publications. This is not meant to take the place of medical advice.
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.
Genetic variants in CACNA1C can cause Brugada syndrome, Long QT syndrome, or Timothy syndrome.
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.
Because the CACNA1C gene is important for many different parts of the body, many people may have:
- Developmental delay
- Low muscle tone
- Speech issues
- Walking and movement issues
- Impaired intellectual development
- Heart structure or function problems
Do people who have CACNA1C-related syndrome look different?
People who have CACNA1C-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Ear defects
- Eye issues and or wide-set eyes
- Thin upper lip
- Teeth problems
- Changes in facial features, which might not be the same in every person
How many people have CACNA1C-related syndrome?
As of 2022, at least 51 people in the world with a CACNA1C genetic variant have been described in medical research.
- Simons Searchlight Community – CACNA1C Facebook group
- Geisinger Developmental Brain Disorder Gene Database – CACNA1C
- Timothy Syndrome Alliance
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.
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.
We do not currently have any stories from CACNA1C families.
Click here to share your family’s story!