Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit

by Dmitry A. Sibarov, Nadine Bruneau, Sergei M. Antonov, Pierre Szepetowski, Nail Burnashev, Rashid Giniatullin, Rashid Giniatullin
Published 2017-05-01

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

by Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron
Published 2014-01-01

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/K...

by Xiao Mao, Xiao Mao, Nadine Bruneau, Quwen Gao, Hélène Becq, Zhengjun Jia, Zhengjun Jia, Hui Xi, Hui Xi, Li Shu, Li Shu, Hua Wang, Hua Wang, Pierre Szepetowski, Laurent Aniksztejn
Published 2020-01-01

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

by Patrice Roll, Damien Sanlaville, Jennifer Cillario, Audrey Labalme, Nadine Bruneau, Annick Massacrier, Marc Délepine, Philippe Dessen, Vladimir Lazar, Andrée Robaglia-Schlupp, Gaëtan Lesca, Elisabeth Jouve, Gabrielle Rudolf, Jacques Rochette, G Mark Lathrop, Pierre Szepetowski
Published 2010-01-01

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.

by Sarah Jamali, Annick Salzmann, Nader Perroud, Magali Ponsole-Lenfant, Jennifer Cillario, Patrice Roll, Nathalie Roeckel-Trevisiol, Ariel Crespel, Jorg Balzar, Kurt Schlachter, Ursula Gruber-Sedlmayr, Ekaterina Pataraia, Christoph Baumgartner, Alexander Zimprich, Fritz Zimprich, Alain Malafosse, Pierre Szepetowski
Published 2010-01-01

Cytomegalovirus Infection of the Rat Developing Brain In Utero Prominently Targets Immune Cells and Promotes Early Microglial Activation.

by Robin Cloarec, Sylvian Bauer, Hervé Luche, Emmanuelle Buhler, Emilie Pallesi-Pocachard, Manal Salmi, Sandra Courtens, Annick Massacrier, Pierre Grenot, Natacha Teissier, Françoise Watrin, Fabienne Schaller, Homa Adle-Biassette, Pierre Gressens, Marie Malissen, Thomas Stamminger, Daniel N Streblow, Nadine Bruneau, Pierre Szepetowski
Published 2016-01-01

In Utero Administration of Drugs Targeting Microglia Improves the Neurodevelopmental Outcome Following Cytomegalovirus Infection of the Rat Fetal Brain

by Robin Cloarec, Robin Cloarec, Sylvian Bauer, Natacha Teissier, Natacha Teissier, Fabienne Schaller, Fabienne Schaller, Hervé Luche, Sandra Courtens, Manal Salmi, Vanessa Pauly, Emilie Bois, Emilie Bois, Emilie Pallesi-Pocachard, Emilie Pallesi-Pocachard, Emmanuelle Buhler, Emmanuelle Buhler, François J. Michel, François J. Michel, Pierre Gressens, Pierre Gressens, Marie Malissen, Thomas Stamminger, Daniel N. Streblow, Nadine Bruneau, Pierre Szepetowski
Published 2018-03-01

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

by Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček
Published 2012-01-01