Biography
Stéphanie Baulac leads the "MOSAIC: Genetic Mosaicism in Epilepsy and Neurodevelopmental Disorders" team at the Paris Brain Institute (ICM). As INSERM Research Director (DR1), she obtained her PhD in neurogenetics from University Paris Cité in 2001, followed by a postdoctoral fellowship at Harvard Medical School (2002-2005) and a research stay at Kyoto University in Japan (2009-2010).
Her career has been distinguished by numerous prestigious awards: the Valérie Chamaillard Prize from the French Foundation for Epilepsy Research (2014), an ERC Consolidator Grant (2016), the Michael Prize - international award in epileptology (2019), the Camille Woringer Prize from the FRM (2019), the Grand Prix Robert Debré for medical research (2019), and the Lamonica Prize in Neurology from the French Academy of Sciences (2024).
She serves on the scientific board of the French League Against Epilepsy (LFCE) and the French Foundation for Epilepsy Research (FFRE).
With over 125 publications and more than 12,500 citations, her research has significantly contributed to understanding the genetic mechanisms of epilepsies, notably through the discovery of mutations in genes of the mTOR signaling pathway.
Research
The team led by Stéphanie BAULAC focuses on focal epilepsies associated with malformations of cortical development caused by mutations in mTOR pathway genes. Her work relies on a translational approach ranging from genetics to experimental models.
The team's main objectives are:
- Identifying the role of brain somatic mutations in epilepsies with cortical malformations, particularly through genetic analyses of resected epileptic tissues.
- Modeling the effect of mutations using cortical organoids derived from patient iPSCs to understand pathogenic mechanisms at the cellular level.
- Studying how mutations in mTOR pathway genes alter cortical development and contribute to epileptogenesis through mouse models, while exploring new targeted therapeutic approaches.
This research ultimately aims to develop personalized treatments for patients with epilepsies associated with cortical malformations.
Principales publications
2025
- Baldassari S, Klingler E, Gomez Teijeiro L, Doladilhe M, Raoux C, Roig Puiggros S, Bizzotto S, Sami L, Ribierre T, Aronica E, Adle-Biassette H, Chipaux M, Jabaudon J and Baulac S. Single-cell genotyping and transcriptomic profiling in focal cortical dysplasia. Nat Neurosci. 2025. doi.org/10.1038/s41593-025-01936-z.
2024
- Boßelmann, C.M., Leu, C., Brünger, T. Hoffmann L, Baldassari S, …, Baulac S, et al. Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR. Nat Commun 15, 10429 (2024).
- Ribierre T, Bacq A, Baldassari S, Maletic M, Roussel D, Donneger F, Doladilhe M, Le Roux I, Chassoux F, Devaux B, Adle-Biassette H, Ferrand-Sorbets S, Dorfmüller G, Chipaux M, Poncer JC and Baulac S. Targeting pathogenic cells reduces seizures in neurodevelopmental mTOR-related epilepsy. Nat Neurosci. 2024 Jun;27(6):1125-1136. doi: 10.1038/s41593-024-01634-2.
2023
- Okoh J, Mays J, Bacq A, Chen C, Imambeyev K, Zhou H, Jafar-Nejad P, Noebels J, Baulac S and Costa-Mattioli M. Targeted suppression of mTORC2 reduces seizures across models of epilepsy. Nat Commun. 2023 Nov 14;14(1):7364. doi: 10.1038/s41467-023-42922-y.
- Checri R, Chipaux M, Ferrand-Sorbets S, Raffo E, Bulteau C, Rosenberg SD, Doladilhe M, Dorfmüller G, Adle-Biassette H, Baldassari S, Baulac S. Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup. Brain Commun. 2023 Jun 1;5(3):fcad174. doi: 10.1093/braincomms/fcad174.
- Chung C, Yang X, Bae T , Vong K, Mittal S , Conti V, Guerrini R, Devinsky O, Wilson A. Silva Jr 18, Helio R. Machado 7, Mathern G , Abyzov A, Baldassari S, Baulac S, Focal Cortical Dysplasia Neurogenetics Consortium &, Brain Somatic Mosaicism Network and Gleeson J. Comprehensive multiomic profiling of somatic mutations in malformations of cortical development. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9
2021
- Kim S*, Baldassari S*, Sim NS, Chipaux M, Dorfmüller G, Kim DS, Chang WS, Taly V, Lee JH and Baulac S. Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients. Annals of Neurology 2021. Jun;89(6):1248-1252. doi: 10.1002/ana.26080.
- Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, Kobow K, Coras R, Chipaux M, Dorfmüller G, Adle-Biassette H, Aronica E, Lee JH, Blumcke I and Baulac S. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathol Commun 2021 Jan 6;9(1):3. doi: 10.1186/s40478-020-01085-3 .
2019
- Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, and Baulac S. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol 2019 Dec;138(6):885-900. doi: 10.1007/s00401-019-02061-5.
2018
- 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. Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy. Journal of Clinical Investigation 2018. Jun 1;128(6):2452-2458. doi: 10.1172/JCI99384.