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NEUROBIOLOGY OF EPILEPSY GENES

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Publications

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

Author(s): Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, Lino Nobili, Edouard Hirsch, Jamel Chelly, Richard A. Prayson, Jean Boutonnat, Manuela Bramerio, Philippe Kahane, Leanne M. Dibbens, Elena Gardella, Stéphanie Baulac, Rikke S. Møller
Published in: Annals of Clinical and Translational Neurology, Issue 6/2, 2019, Page(s) 386-391, ISSN 2328-9503
DOI: 10.1002/acn3.708

Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis

Author(s): Antonio De Fusco, Maria Sabina Cerullo, Antonella Marte, Caterina Michetti, Alessandra Romei, Enrico Castroflorio, Stephanie Baulac, Fabio Benfenati
Published in: Neurobiology of Disease, Issue 139, 2020, Page(s) 104822, ISSN 0969-9961
DOI: 10.1016/j.nbd.2020.104822

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