Understanding and treating DNM1 epilepsy
ENDEAVOUR PROJECT GRANT
£154,537 over 24 months, awarded in 2020
Professor Mike Cousin
University of Edinburgh
Epileptic encephalopathies (EE) are a group of disorders where epileptic activity overrides the normal function of the brain. This is often caused by genetic mutations and can result in drug-resistant epilepsy. Mutations in the gene DNM1, which is involved in a brain communication process called endocytosis, cause a specific type of EE.
"The proportion of people with epilepsy that are unresponsive to current drugs has not changed in the past 20 years. Therefore, we need innovative thinking, with new molecules and processes to target. We know that faulty endocytosis can lead to seizure activity, suggesting drugs that correct or accelerate endocytosis may be antiepileptic. These new drugs have the potential to benefit people with different epilepsies, since endocytosis is essential for brain communication.
Professor Cousin will investigate altered endocytosis in EE, and whether it could be used as a new therapeutic route for the condition. Using an animal model of DNM1 epilepsy, the research team will determine how DNM1 dysfunction affects the ability of individual brain cells to operate and communicate with each other. Ultimately, they want to determine how this dysfunction manifests itself as seizure activity and indicate whether a new drug could be used as an effective treatment.
Many EEs are drug resistant so new molecules and processes to target them need to be identified. If this research demonstrates that endocytosis plays a role in seizure activity, future drug trials could target this process in people with different epilepsies.
