Research - Norwalk, Connecticut, United States
The CACNA1A Foundation is a 501(c)(3) nonprofit organization dedicated to finding specific treatment options and a cure for CACNA1A patients by building a collaborative network of patients, families, clinicians and scientists that will work together to raise awareness and accelerate the understanding, diagnosis and treatment of CACNA1A-linked diseases.CACNA1A gene mutations cause an array of neurodevelopmental disorders such as epilepsy, movement and coordination issues, and hemiplegic migraines, a stroke-like condition that can result in skill regression, coma, and brain swelling. CACNA1A is a gene that is highly expressed in the central nervous system and the cerebellum. Currently, there are no curative therapies for individuals with CACNA1A variants.
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