Explore the words cloud of the EPITOR project. It provides you a very rough idea of what is the project "EPITOR" about.
The following table provides information about the project.
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
|Coordinator Country||France [FR]|
|Total cost||1˙998˙760 €|
|EC max contribution||1˙998˙760 € (100%)|
1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
|Duration (year-month-day)||from 2016-10-01 to 2021-09-30|
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|1||INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE||FR (PARIS)||coordinator||1˙998˙760.00|
Ion channel genes have long been linked to Mendelian focal epilepsies, but my recent finding of frequent mutations in DEPDC5 opens completely new perspectives. DEPDC5 is an inhibitor of the mTORC1 (mammalian target of rapamycin) signaling pathway, the master regulator of cell proliferation and growth. Mutations of this gene are found in a wide spectrum of focal epilepsy syndromes, with or without cortical malformations. I propose to examine the links between DEPDC5 and the mTORC1 pathway in cortical development and the genesis of epileptic activity. My proposal work will combine high-throughput sequencing, in vivo proteomics, biochemistry, electrophysiology, and animal behavior testing (video-EEG). Functional analyses will be made on human postoperative tissue and neuronal cultures from human iPSC and specific rodent models. These approaches will enable me to (1) ask if and how the mTORC1 signaling pathway may contribute to epileptogenesis and seizures in patients with DEPDC5 mutations, (2) attempt to explain the diversity of phenotypes, in particular the presence of cortical lesion by searching for somatic brain mutations in the gene, (3) explore neurobiology pathways and partners of DEPDC5, and (4) identify novel actors for inherited focal epilepsies. Our results will help us understand the genesis of epileptic networks, and more generally how defects in mTORC1 signaling cascade cause neurologic conditions. We anticipate genetic studies on germline and somatic mutations will have a significant clinical impact for genetic counseling and improved prognosis. The molecules and pathways that will be studied in this proposal differ completely from ion channels and receptors that have been so far associated with focal epilepsies. Thus I hope to provide a new orientation for the field, to identify novel genetic mechanisms and to provide an unbiased route to new molecular therapeutic targets.
|year||authors and title||journal||last update|
Sara Baldassari, ThÃ©o Ribierre, Elise Marsan, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg DorfmÃ¼ller, Mathilde Chipaux, StÃ©phanie Baulac
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study
published pages: 885-900, ISSN: 0001-6322, DOI: 10.1007/s00401-019-02061-5
|Acta Neuropathologica 138/6||2019-12-16|
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 DorfmÃ¼ller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, DaniÃ«lle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe dâ€™Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, MÃ©lanie Jennesson, Shifteh Sattar, CÃ©cile Marchal, Douglas R Nordli, Kristin Lindstrom, Pasquale Striano, Lysa BoissÃ© Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, HÃ©lÃ¨ne Catenoix, Thomas Dorn, Martin Zenker, Karen MÃ¼ller-SchlÃ¼ter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. MÃ¸ller, StÃ©phanie Baulac, StÃ©phanie Baulac
The landscape of epilepsy-related GATOR1 variants
published pages: 398-408, ISSN: 1098-3600, DOI: 10.1038/s41436-018-0060-2
|Genetics in Medicine||2019-06-18|
E. Marsan, S. Baulac
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy
published pages: 6-17, ISSN: 0305-1846, DOI: 10.1111/nan.12463
|Neuropathology and Applied Neurobiology 44/1||2019-06-18|
ThÃ©o Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, StÃ©phanie Baulac
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasiaâ€“associated epilepsy
published pages: 2452-2458, ISSN: 0021-9738, DOI: 10.1172/JCI99384
|Journal of Clinical Investigation 128/6||2019-06-18|
ThÃ©o Ribierre and StÃ©phanie Baulac
Le mosaÃ¯cisme somatique encause dans les Ã©pilepsies neurodÃ©veloppementales
published pages: 289-307, ISSN: , DOI: 10.1051/medsci/2019058
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