PRIZES AND AWARDS
The main objectives of my research are to attempt to unravel the molecular bases of selected forms of monogenic epilepsies and to elucidate their underlying pathophysiological mechanisms.
My major achievements are the identification of three major epilepsy genes (SCN1A (Escayg et al., 2000), GABRG2 (Baulac et al., 2001) and DEPDC5 (Ishida et al., 2013)). During the past years, my main projects aimed to elucidate the function of non-ion channel epilepsy LGI1 gene with cellular, as well as genetic mice and rat models of Lgi1-related epilepsy (Chabrol et al., 2010; Baulac et al., 2012; Boillot et al., 2014; Chabrol et al., 2007).
Currently, my projects are focused on the DEPDC5 gene, an element of the mammalian target of rapamycin (mTOR) signaling pathway (review, Baulac, 2016), as well as NPRL2/3, its binding partners (Weckhuysen et al., 2016). We have discovered germline DEPDC5 mutations in patients with focal cortical dysplasia (FCD), a malformation of cortical development that frequently cause intractable pediatric epilepsy. Our pioneer studies revealed a second-hit somatic DEPDC5 mutation in resected brain tissue after epilepsy surgery on a patient with FCD (Baulac, 2015). We have recently generated and characterized Depdc5-deficient rats, demonstrating that they present most features of mTORopathy models (Marsan et al. 2016).