A specialist in genetics of epilepsy, Stephanie Baulac, co-responsible of the team “genetics and physiopathology of family epilepsies” at the ICM, is the winner of an ERC Consolidator Grant.
ERC Grants aim to support talented researchers with ambitious and innovative scientific projects.
Stéphanie Baulac‘s project objective is to understand the severity of focal epilepsies, the origin of the seizures being located in a specific area of the brain. And to answer the following questions : Is a second somatic mutation of DEPDC5 gene responsible for the severity or the location of the seizure ? Why are the seizures focal ? And which phenomenon is responsible for the location ?
This work will allow to diagnose precisely epilepsies in order to adapt the antiepileptic treatment. Moreover, the DEPDC5 gene is involved in an essential signalling pathway to growth and cell proliferation, mTOR.
The team’s hope would be to validate a first model of the pathology, explain the mechanisms involved in epilepsies related to the mTOR pathway, and consider new therapeutic leads.