NEUROBIOLOGY OF EPILEPSY GENES

Project Information

EPITOR

Grant agreement ID: 682345

DOI

10.3030/682345

Project closed

EC signature date 27 September 2016

Start date 1 October 2016

End date 30 September 2022

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost

€ 1 998 760,00

EU contribution

€ 1 998 760,00

Coordinated by

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

Peer reviewed articles (12)

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
Publisher: xx
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
Publisher: Academic Press
DOI: 10.1016/j.nbd.2020.104822

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

Author(s): Thomas Bonduelle; Till Hartlieb; Sara Baldassari; Nam Suk Sim; Se Hoon Kim; Hoon Chul Kang; Katja Kobow; Roland Coras; Mathilde Chipaux; Georg Dorfmüller; Homa Adle-Biassette; Eleonora Aronica; Jeong Ho Lee; Ingmar Blümcke; Stéphanie Baulac
Published in: Acta Neuropathologica Communications, Issue 4, 2021, ISSN 2051-5960
Publisher: BioMed Central
DOI: 10.1186/s40478-020-01085-3

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.

Author(s): Wei Shern Lee; Sara Baldassari; Mathilde Chipaux; Homa Adle-Biassette; Sarah E.M. Stephenson; Wirginia J. Maixner; Wirginia J. Maixner; A. Simon Harvey; A. Simon Harvey; Paul J. Lockhart; Stéphanie Baulac; Richard J. Leventer; Richard J. Leventer
Published in: Annals of Clinical and Translational Neurology, Issue 3, 2021, ISSN 2328-9503
Publisher: Wiley online
DOI: 10.1002/acn3.51286

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Author(s): Claudia M Bonardi; Henrike O. Heyne; Henrike O. Heyne; Martina Fiannacca; Mark Fitzgerald; Elena Gardella; Boudewijn Gunning; Kern Olofsson; Gaetan Lesca; Nienke E. Verbeek; Hannah Stamberger; Pasquale Striano; Federico Zara; Maria Margherita Mancardi; Caroline Nava; Steffen Syrbe; Salvatore Buono; Stéphanie Baulac; Antonietta Coppola; Sarah Weckhuysen; An-Sofie Schoonjans; Berten Ceulemans; Cath
Published in: Brain, Issue 1, 2021, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab219

Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial

Author(s): Blümcke I, Coras R, Busch RM, Morita-Sherman M, Lal D, Prayson R, Cendes F, Lopes-Cendes I, Rogerio F, Almeida VS, Rocha CS, Sim NS, Lee JH, Kim SH, Baulac S, Baldassari S, Adle-Biassette H, Walsh CA, Bizzotto S, Doan RN, Morillo KS, Aronica E, Mühlebner A, Becker A, Cienfuegos J, Garbelli R, Giannini C, Honavar M, Jacques TS, Thom M, Mahadevan A, Miyata H, Niehusmann P, Sarnat HB, Söylemezoglu
Published in: Epilepsia, 2021, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1111/epi.16899

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
Publisher: American Society for Clinical Investigation
DOI: 10.1172/JCI99384

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
Publisher: Lippincott Williams & Wilkins Ltd.
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
Publisher: Springer Verlag
DOI: 10.1007/s00401-019-02061-5

Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients

Author(s): Seyeon Kim; Sara Baldassari; Nam Suk Sim; Mathilde Chipaux; Georg Dorfmüller; Dong Seok Kim; Won Seok Chang; Valérie Taly; Jeong Ho Lee; Stéphanie Baulac
Published in: Annals of Neurology, Issue 2, 2021, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.26080

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

Author(s): Elise Marsan, Stéphanie Baulac
Published in: Neuropathology and Applied Neurobiology, 2018, ISSN 0305-1846
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/nan.12463

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene

Author(s): Carmen Barba, Ingmar Blumcke, Melodie R. Winawer, Till Hartlieb, Hoon-Chul Kang, Laura Grisotto, Mathilde Chipaux, Christian G. Bien, Barbora Heřmanovská, Brenda E. Porter, Hart G.W. Lidov, Valentina Cetica, Friedrich G. Woermann, Javier A. Lopez-Rivera, Peter D. Canoll, Irina Mader, Ludovico D'Incerti, Sara Baldassari, Edward Yang, Ahmed Gaballa, Hannes Vogel, Barbora Straka, Letizia Macconi, T
Published in: Neurology, 2022, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000201471