Where in the World are CACNA1A Patients?

CACNA1A-related disorders are rare genetic diseases caused by a variant on the CACNA1A gene and affect patients worldwide. We’ve built this map as a visual representation of where our community is located across the globe.

If you are an individual with CACNA1A or the parent/primary caregiver of an individual with CACNA1A, we encourage you to register in our contact registry, and we will place you on the map! By sharing your contact information, we can communicate research and clinical trial opportunities with you, provide educational and advocacy resources, and help families connect.

Like most rare diseases, CACNA1A is significantly underdiagnosed. In Clinvar (a public database of genetic variants), as of December 2022, 2331 individuals have received a CACNA1A diagnosis of pathogenic, likely pathogenic, or a variant of uncertain significance. As you can see, we only have a fraction of those individuals in our database. We must identify every person in the world with a CACNA1A variant and galvanize our community. The larger our population, the more leverage we have to engage biopharma and encourage investment in our disease. Please make sure you or your loved one is counted! 

If you are unsure if you are already listed, email us, and we will let you know.