Previous page Stéphanie BAULAC PhD, DR2, INSERM Team “Genetics and physiopathology of epilepsy” https://www.baulacleguernepilepsy.com/
BiographyStéphanie Baulac is leader of the team “Genetics and physiopathology of epilepsy » (co-lead). She received a M.Sc. in human genetics in 1998, and a Ph.D. in Neurogenetics of the University Paris V René Descartes in 2001. She received in 2014 the Valerie Chamaillard Prize, an award from the French foundation for the research on epilepsy. In 2016, she was awarded an ERC consolidator grant. In 2019, she has been awarded the international Michael Prize, recognizing her significant contributions to the field of epilepsy (prize shared with B. Frauscher). Stéphanie is the scientific director of the iGenSeq (Genotyping and Sequencing Core) Facility of ICM.
Research workFamilial focal epilepsies & Focal epilepsies associated to malformations of cortical development such as Focal Cortical Dysplasia (FCD). Stéphanie BAULAC’s team investigates the focal epilepsies linked to the mTORC1 pathway through three main aims:
- Assess the role and origin of brain somatic mutations in epilepsies with malformations of cortical development
- Investigate the effect of mutations using patient’s iPSCs
- Understand how mutations in the mTOR pathway genes contribute to epileptogenesis and seizures using mice models (in utero electroporation focal models and knockouts)
- Baldassari S, Picard F, Verbeek B, ….. Møller R and Baulac S (2018). The landscape of epilepsy-related GATOR1 variants. Genetics in Medicine, Genetics in Medicine. 2019 Feb;21(2):398-408
- Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M, Muraca G, Roussel D, Navarro V, Leguern E, Miles R and Baulac S (2018). Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy. Journal of Clinical Investigation Jun 1;128(6):2452-2458. Highlighted by the editor in the “JCI This Month”.
- Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM and Baulac S (2016). Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet. Oct 31;2(6):e118
- Marsan E, Ishida S, Schramm A, Weckhuysen S, Muraca G, Lecas S, Liang N, Treins C, Pende M, Roussel D, Le Van Quyen M, Mashimo T, Kaneko T, Yamamoto T, Sakuma T, Mahon S, Miles R, Leguern E, Charpier S, Baulac S. (2016) Depdc5 knockout rat: A novel model of mTORopathy. Neurobiol Dis 89:180-189.
- Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S. (2016) Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia 57:994-1003. Article awarded the 2017 Clinical Epilepsia Prize.
- Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F (2015). Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Annals of Neurology. Apr; 77(4): 675-83. Highlighted as Best Advances of 2015 by the Neurology Today Editorial Advisory Board.
- Boillot M, Huneau C, Marsan E, Lehongre K, Navarro V, Ishida S, Dufresnois B, Ozkaynak E, Garrigue J, Miles R, Martin B, Leguern E, Anderson M and Baulac S (2014). Glutamatergic neuron-targeted loss of Lgi1-epilepsy gene results in seizures. Brain, Nov; 137(Pt 11): 2984-96.
- Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E and Baulac S (2013). Mutations of DEPDC5 cause autosomal dominant focal epilepsies.Nature Genetics, Apr 26; 45(5): 552-5. Highlighted in Nature reviews.