Developing novel treatments for MTOR-related severe childhood epilepsies
Chief Investigator: Professor Leanne Dibbens
Research Area: Improving children’s mental health and the impact of developmental disorders. Basic Science
Funding Year: 2021
Funding Amount: $98,000
Recipient: University of South Australia
Epilepsy affects approximately 2% of 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.