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

por Sibarov, Dmitry A., Bruneau, Nadine, Antonov, Sergei M., Szepetowski, Pierre, Burnashev, Nail, Giniatullin, Rashid
Publicado 2017

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 K(Na)1.1...

por Mao, Xiao, Bruneau, Nadine, Gao, Quwen, Becq, Hélène, Jia, Zhengjun, Xi, Hui, Shu, Li, Wang, Hua, Szepetowski, Pierre, Aniksztejn, Laurent
Publicado 2020

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

por Royer, Barbara, Soares, Dinesh C, Barlow, Paul N, Bontrop, Ronald E, Roll, Patrice, Robaglia-Schlupp, Andrée, Blancher, Antoine, Levasseur, Anthony, Cau, Pierre, Pontarotti, Pierre, Szepetowski, Pierre
Publicado 2007

Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

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

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

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

Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile Seizures

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

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

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

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

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

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

por Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O’Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C
Publicado 2013