Function of ATP1A3 in neurons. This ATPase subunit is important for maintaining the electrochemical gradient across the plasma membranes. Temporary breakdown of this gradient causes the symptomes of AHC and DYT12.
Ingo Helbig
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany