September 7th 2013
AHC is caused by mutations in ATP1A3
Currently, more than 20 different AHC mutations have been reported.
At this moment it is very important to fully understand the molecular consequences of all these mutations.
This research will attempt to explore and understand the direct relation between these mutations and AHC.
AHC is a rare (1/1.000.000) disease that is caused by a mutation in a gene, ATP1A3. The mutation causes temporal paralyzes in one or both sides of the body. AHC is often accompanied with dystonia, nystagmus, epilepsy and developmental delays.