Developing novel treatments for MTOR-related severe childhood epilepsies
Professor Leanne Dibbens
Improving children’s mental health and the impact of developmental disorders.
University of South Australia
Epilepsy affects approximately 2% children worldwide and 25% do not respond to existing medications. Recurring seizures in children disrupt learning, negatively impact self-esteem and diminish safety. We have identified mutations in genes of the MTOR signalling pathway in children with severe epilepsies, but do not yet understand how these lead to the excessive electrical activity in the brain that cause seizures. We will investigate this by using electrophysiological analyses in model organisms of MTOR-related childhood epilepsy. We will investigate the ability of several molecules to block MTOR activity to identify potential new therapies for childhood epilepsies.