Skip to main content

NEUROBIOLOGY OF EPILEPSY GENES

Searching for OpenAIRE data...

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

Author(s): Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernand
Published in: Genetics in Medicine, 2018, Page(s) 398-408, 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