CV Science

Stéphanie Baulac PhD Neurogenetics

Course and current status

CURRENT POSITION 

• Since 2013: Research Director (DR2 Inserm), ICM (Inserm U1127), Paris, France

• Since 2013: ICM Group leader: team Genetics and Physiopathology of Familial Epilepsies (co-head with E. Leguern)

• Since sept 2010: Tenure Researcher (CR1), CRICM 975, Institut du Cerveau et de la Moelle, Hôpital de la Pitié-Salpêtrière, Paris (team Dr. Eric Leguern).

• 2009-2010: Sabbatical research year at Kyoto University, Institute of Laboratory Animals, Japan (Pr T. Serikawa)

• 2005- 2009: Tenure Researcher (CR2), INSERM UMR679, Hôpital de la Pitié-Salpêtrière, Paris (Dr E. Hirsch).

• 2002-2005: Postdoctoral Research fellow, Harvard Medical School, Boston, USA (Dr D. Selkoe).

• 1997-2001: PhD Research fellow, INSERM UMR679, Hôpital de la Pitié-Salpêtrière, Paris (Pr Y. Agid)

PRIZES AND AWARDS

• 2016: Recipient of a European research council (ERC) consolidator grant (5 years-long)

• 2015: Recipient of a National medical translational stipend with Paris Hospital (3 years-long)

• 2014: Prize from the French Foundation for Research in Epilepsy (FFRE-Valerie Chamaillard)

• 2012:  Young investigator award at the 10^th European Congress on Epileptology

• 2010: Prize for the best publication of the year from French League Against Epilepsy (LFCE)

• 2000: Prize for the best Contribution in Basic Sciences at the 4^th European Congress Epileptology

Scientific summary

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).