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NEUROBIOLOGY OF EPILEPSY GENES

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Publications

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

Author(s): Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, Stéphanie Baulac
Published in: Journal of Clinical Investigation, Issue 128/6, 2018, Page(s) 2452-2458, ISSN 0021-9738
DOI: 10.1172/JCI99384

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy

Author(s): E. Marsan, S. Baulac
Published in: Neuropathology and Applied Neurobiology, Issue 44/1, 2018, Page(s) 6-17, ISSN 0305-1846
DOI: 10.1111/nan.12463

The landscape of epilepsy-related GATOR1 variants


Published in: ISSN 1098-3600
DOI: 10.1038/s41436-018-0060-2

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Author(s): Sara Baldassari, Théo Ribierre, Elise Marsan, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg Dorfmüller, Mathilde Chipaux, Stéphanie Baulac
Published in: Acta Neuropathologica, Issue 138/6, 2019, Page(s) 885-900, ISSN 0001-6322
DOI: 10.1007/s00401-019-02061-5

Le mosaïcisme somatique encause dans les épilepsies neurodéveloppementales

Author(s): Théo Ribierre and Stéphanie Baulac
Published in: médecine/sciences, 2019, Page(s) 289-307
DOI: 10.1051/medsci/2019058