Mécénat des Mutuelles
France
Brain mosaicism in epilepsy: targeted molecular and therapeutic bases
Brain mosaicism plays a key role in several neurodevelopmental diseases, including focal cortical dysplasia (FCD). Focal cortical dysplasias (FCDs) are rare brain malformations that occur during fetal development. These malformations affect the cerebral cortex - the brain's region responsible for complex neurological functions, such as intelligence, voluntary movement and consciousness. FCDs manifest in young children as epilepsy that is resistant to conventional antiepileptic drugs, often accompanied by developmental delays.
The treatment of FCDs frequently requires major brain surgery to remove the area generating epileptic seizures. However, successful surgery cases concern only 50% of patients, and in other cases, the operation is not an option due to surgical inaccessibility. Treatment of FCDs therefore represents a major medical challenge with an urgent need for new therapeutic approaches.
This research project led by Stéphanie Baulac aims to advance our understanding of the molecular origins of epilepsies related to FCDs, in order to propose a genetic diagnosis and better understand the mechanisms that trigger seizures.
By identifying the genetic causes that occur in the brain, this proposal aims to pave the way for new targeted therapeutic avenues in this type of epilepsy.
Stéphanie
BAULAC
Institution
Fondation pour la Recherche Médicale
Country
France
Nationality
French