Resources
A selection of reliable resources. Most are in English for now: we will be adding guides in Catalan and Spanish.
Understanding CACNA1A
Taking part in research
Frequently asked questions
Is CACNA1A inherited?
Sometimes. A variant can be inherited from a parent, who may have mild symptoms or none at all. In many children the variant is new (de novo) and the parents do not carry it. A genetic counsellor can explain your case.
Will my child's symptoms be like Martí's?
Not necessarily. Even people with the same variant can be affected very differently. Your medical team is the best guide for your child.
Is there a treatment?
There is no cure yet, but therapies and some medicines help with specific symptoms. Research is advancing, and registries help make it possible.
Do I have to live in Catalonia to contact you?
No. We are based in Catalonia, but any family or professional in Spain or the rest of Europe can contact us.
How much does it cost to join?
Membership fees will be approved by the general assembly. Write to us and we'll tell you how to join.