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

Autor: 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

Publikováno v: PLoS ONE, Vol 11, Iss 7, p e0160176 (2016)

Congenital cytomegalovirus infections are a leading cause of neurodevelopmental disorders in human and represent a major health care and socio-economical burden. In contrast with this medical importance, the pathophysiological events remain poorly kn

Externí odkaz: https://doaj.org/article/371226e8d6c4478288cb0926fc420cb7

Impaired vocal communication, sleep‐related discharges, and transient alteration of slow‐wave sleep in developing mice lacking the GluN2A subunit of N ‐methyl‐ d ‐aspartate receptors

Autor: Giuseppe Bertini, Rustem Khazipov, Vanessa Pauly, Nail Burnashev, Andrey Zakharov, Marat Minlebaev, Jérôme Epsztein, Séverine Corby-Pellegrino, Federico Del Gallo, Pierre-Pascal Lenck-Santini, Alexandre Pons-Bennaceur, Pierre Szepetowski, Pauline Perron, Laurent Aniksztejn, Manal Salmi

Publikováno v: Epilepsia
Epilepsia, Wiley, 2019, ⟨10.1111/epi.16060⟩
Epilepsia, 2019, ⟨10.1111/epi.16060⟩

Objective Glutamate-gated N-methyl-d-aspartate receptors (NMDARs) are instrumental to brain development and functioning. Defects in the GRIN2A gene, encoding the GluN2A subunit of NMDARs, cause slow-wave sleep (SWS)-related disorders of the epilepsy-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf8e5503e79a5ca4b0ff3b775702d86
https://hal.science/hal-02272373

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Autor: Niels Tommerup, Cristina Pomeran, Patrick Edery, Manal Salmi, Robert Huether, Julitta de Bellescize, Audrey Labalme, Catrinel Iliescu, Mana M. Mehrjouy, Mohamed Abbas, Sarah Weckhuysen, Candace T. Myers, Alice Dica, Rikke S. Møller, Pierre Szepetowski, Gaetan Lesca, Katherine L. Helbig, Edouard Hirsch, Gabrielle Rudolf, Julia Scholly, Maria Paola Valenti-Hirsch, Ingrid E. Scheffer, Nadine Bruneau, Caroline Schluth-Bolard, Gemma L. Carvill, Hannah Stamberger, Hsiao-Mei Lu, Joel Victor Fluss, Elena Neagu, Safia Coulbaut, Dana Craiu, Julie S. Cohen, James Rubenstein, Ingo Helbig, Heather C Mefford, Manuela Pendziwiat, Iben Bache, Frédérique Sloan-Béna, Deepali N. Shinde, Damien Sanlaville, Sha Tang

Publikováno v: European Journal of Human Genetics, Vol. 24, No 12 (2016) pp. 1761-1770
Rudolf, G, Lesca, G, Mehrjouy, M M, Labalme, A, Salmi, M, Bache, I, Bruneau, N, Pendziwiat, M, Fluss, J, de Bellescize, J, Scholly, J, Møller, R S, Craiu, D, Tommerup, N, Valenti-Hirsch, M P, Schluth-Bolard, C, Sloan-Béna, F, Helbig, K L, Weckhuysen, S, Edery, P, Coulbaut, S, Abbas, M, Scheffer, I E, Tang, S, Myers, C T, Stamberger, H, Carvill, G L, Shinde, D N, Mefford, H C, Neagu, E, Huether, R, Lu, H-M, Dica, A, Cohen, J S, Iliescu, C, Pomeran, C, Rubenstein, J, Helbig, I, Sanlaville, D, Hirsch, E & Szepetowski, P 2016, ' Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy ', European Journal of Human Genetics, vol. 24, pp. 1761-1770 . https://doi.org/10.1038/ejhg.2016.80
European journal of human genetics

Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized ton

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d0c93ae56414cf0f2f2e05fdbbaecc6
https://archive-ouverte.unige.ch/unige:96873

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Autor: Nadine Bruneau, Pascal Vrielynck, Deb K. Pal, Audrey Labalme, Vera Tsintsadze, Alexis Arzimanoglou, Gaetan Lesca, Julitta de Bellescize, Gabrielle Rudolf, Patrick Waters, Nail Burnashev, Anne de Saint Martin, Laura Addis, Natalia Lozovaya, Lisa J. Strug, Damien Sanlaville, Anne Michel, Dorothée Ville, Diane Doummar, Timur Tsintsadze, Edouard Hirsch, Pierre Szepetowski, Manal Salmi, Nadia Boutry-Kryza, Sukhvir Wright, Jacques Motte, Karine Lascelles, Philippe Ryvlin, Angela Vincent

Publikováno v: Nature genetics. 45(9)

Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves dur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b237ff21cb22e4af4d97b00757cf28ba
http://ora.ox.ac.uk/objects/uuid:95a52af1-d2e5-4de2-bbee-ad940a1655e3

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

Autor: Natalio Fejerman, Clotilde Boulay, Alasdair G. W. Hunter, Nadine Bruneau, Jacques Rochette, Robin Cloarec, Pierre Szepetowski, Sau Wei Wong, Louis J. Ptáček, Pierre Genton, Ying-Hui Fu, Gabrielle Rudolf, Manal Salmi, Gaetan Lesca, Annick Massacrier, Damien Sanlaville, Agathe Roubertie, Roberto Caraballo, Marc Bataillard, Jacques Motte, Edouard Hirsch

Publikováno v: Neurology, vol 79, iss 21

Objective: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::def53d4325b7fddecf89c904c6b1bb2a
https://pubmed.ncbi.nlm.nih.gov/23077020