Our Story
The CACNA1H Alliance was started by a mother whose child was found to have a mutation in CACNA1H. After years of medical complications not supported by current diagnoses, neurologists determined it was time to pursue genetic testing.
CACNA1H
CACNA1H is located on the short arm of chromosome 16 at position 13.3 and encodes the pore-forming alpha subunit of the T-type, low voltage–activated calcium channel (CaV3.2). This gene has been associated with childhood absence epilepsy, primary aldosteronism, autism spectrum disorders, amyotrophic lateral sclerosis (ALS), and congenital amyotrophy.