The MDGA2gene contains the instructions for making a protein that sits on the surface of brain cells. This protein works as a brake to keep brain activity balanced. When neither copy of the gene works, this brake is missing. Without it, connections between brain cells become overactive, disrupting the normal balance between stimulating and inhibitory (calming) signals in the brain. This imbalance is thought to be the underlying cause of the severe and uncontrolled seizures seen in children with this condition.
The genetic changes found in all affected children completely stop the protein from being made or prevent it from reaching the cell surface where it normally works. Genetic testing using whole exome or whole genome sequencing used to confirm the diagnosis.
MDGA2