ADVENCING EPILEPSY RESEARCH

Epilepsies & mTORpathies

Stéphanie BAULAC
ICM, Paris

Stéphanie Baulac is the co-leader of the "Genetics and physiopathology of familial epilepsies" team at the Institut du Cerveau et de la Moelle épinière (ICM) in Paris. The main objectives of her research are to attempt to unravel the molecular bases of selected forms of monogenic epilepsies and to elucidate their underlying pathophysiological mechanisms. She identified three major epilepsy genes (SCN1A (Escayg et al., 2000), GABRG2 (Baulac et al., 2001) and DEPDC5 (Ishida et al., 2013)) and elucidated the function of the non-ion channel epilepsy LGI1 gene with cellular, as well as genetic mice and rat models of Lgi1-related epilepsy (Boillot et al., 2014). Her research now focuses on the molecular signaling of DEPC5, an element of the mammalian target of rapamycin (mTOR) signaling pathway (Baulac, 2016) and a potential risk factor in defining familial focal epilepsies (Ribierre & Baulac, 2017). She has generated and characterized Depdc5-deficient rats, demonstrating that they present most features of mTORopathy models (Marsan et al. 2016).