AHCF and AHC Association of Iceland join forces!
AHCF and the AHC Association of Iceland have collaborated to fund a research grant awarded to Dr. J Koenderink of the Netherlands. Another important research project getting us ever closer to a treatment and a cure! Thanks to all the families who fundraise and make it possible.
Press Release: September 7th 2013
AHC Foundation and AHC Association of Iceland have awarded Professor Koenderink of the Radboud University Nijmegen Medical Centre a €20,000 grant.
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.