Fellowship award: Towards a better understanding and better treatment of TSC-related epilepsy


Grant holder: Professor. Ype Elgersma
Fellow: Dr Jadwiga Schreiber
Erasmus Medical Center, The Netherlands

 

Up to 90% of TSC patients suffer from epilepsy. Current treatment often consists of multiple anti-epileptic drugs (AEDs), but success is often poor and temporary. An effective treatment for TSC-associated epilepsy should ideally target the primary causes of the seizures instead of suppressing the secondary manifestations that are the results of the seizures. The aim of this research is to identify and treat these primary changes in the brain that lead to TSC-associated epilepsy.

Although several mechanisms for the development of epilepsy in TSC have been proposed, the order and importance of specific changes in the brain before, during and after seizure onset could never be dissected. To address this, the researcher have developed a unique TSC mouse model. In their mouse the TSC1 gene can be acutely deleted in the brain, resulting in epilepsy within a few days. This allows them, for the first time, to distinguish between the changes that cause epilepsy from those that are consequences of it.

They will test established as well as new AEDs and compounds (e.g. Everolimus), which directly target the TSC pathophysiology. They will evaluate which pre- or post-epileptic changes these molecules target and determine which drugs would be the most effective for treating TSC. pharmacological targeting of the primary changes might not only lead to the development of TSC-specific treatment but might also help suppress the development of secondary manifestations of the disease.



comments powered by Disqus