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EPITOR SIGNED

NEUROBIOLOGY OF EPILEPSY GENES

Total Cost €

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EC-Contrib. €

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Partnership

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 EPITOR project word cloud

Explore the words cloud of the EPITOR project. It provides you a very rough idea of what is the project "EPITOR" about.

electrophysiology    ipsc    mutations    therapeutic    focal    malformations    vivo    receptors    counseling    behavior    postoperative    somatic    germline    genesis    syndromes    rapamycin    channels    actors    throughput    signaling    regulator    route    defects    neuronal    brain    links    cultures    seizures    ask    spectrum    cell    models    biochemistry    prognosis    differ    functional    epileptic    generally    frequent    neurobiology    unbiased    opens    found    combine    epilepsy    explore    inhibitor    epileptogenesis    neurologic    mammalian    sequencing    cascade    me    mechanisms    patients    cortical    proteomics    eeg    master    epilepsies    made    hope    lesion    networks    anticipate    rodent    animal    understand    human    mtorc1    completely    depdc5    inherited    attempt    genetic    examine    ion    gene    genes    mendelian    proliferation    searching    orientation    linked    clinical    molecules    channel    phenotypes    molecular    video    diversity    tissue    perspectives   

Project "EPITOR" data sheet

The following table provides information about the project.

Coordinator
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE 

Organization address
address: RUE DE TOLBIAC 101
city: PARIS
postcode: 75654
website: www.inserm.fr

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country France [FR]
 Total cost 1˙998˙760 €
 EC max contribution 1˙998˙760 € (100%)
 Programme 1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
 Code Call ERC-2015-CoG
 Funding Scheme ERC-COG
 Starting year 2016
 Duration (year-month-day) from 2016-10-01   to  2021-09-30

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE FR (PARIS) coordinator 1˙998˙760.00

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 Project objective

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.

 Publications

year authors and title journal last update
List of publications.
2019 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
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
2018 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 Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé 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, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, 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. Møller, Stéphanie Baulac, Stéphanie 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
2018 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
2018 Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, Stéphanie Baulac
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy
published pages: 2452-2458, ISSN: 0021-9738, DOI: 10.1172/JCI99384
Journal of Clinical Investigation 128/6 2019-06-18
2019 Théo Ribierre and Stéphanie Baulac
Le mosaïcisme somatique encause dans les épilepsies neurodéveloppementales
published pages: 289-307, ISSN: , DOI: 10.1051/medsci/2019058
médecine/sciences 2019-05-22

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