Population pharmacokinetics of oxcarbazepine and its monohydroxy derivative in epileptic children

od Rodrigues, Christelle, Chiron, Catherine, Rey, Elisabeth, Dulac, Olivier, Comets, Emmanuelle, Pons, Gérard, Jullien, Vincent
Wydane w Br J Clin Pharmacol (2017)

Optimizing statistical parametric mapping analysis of (18)F-FDG PET in children

od Archambaud, Frederique, Bouilleret, Viviane, Hertz-Pannier, Lucie, Chaumet-Riffaud, Philippe, Rodrigo, Sebastian, Dulac, Olivier, Chassoux, Francine, Chiron, Catherine
Wydane 2013

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

od Cormier-Daire, Valérie, Dagoneau, Nathalie, Nabbout, Rima, Burglen, Lydie, Penet, Clotilde, Soufflet, Christine, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier
Wydane 2000

Auditory Stimuli Mimicking Ambient Sounds Drive Temporal “Delta-Brushes” in Premature Infants

od Chipaux, Mathilde, Colonnese, Matthew T., Mauguen, Audrey, Fellous, Laure, Mokhtari, Mostafa, Lezcano, Oscar, Milh, Mathieu, Dulac, Olivier, Chiron, Catherine, Khazipov, Rustem, Kaminska, Anna
Wydane 2013

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

od Nabbout, Rima, Chemaly, Nicole, Chipaux, Mathilde, Barcia, Giulia, Bouis, Charles, Dubouch, Celia, Leunen, Dorothee, Jambaqué, Isabelle, Dulac, Olivier, Dellatolas, Georges, Chiron, Catherine
Wydane w Orphanet J Rare Dis (2013)

Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome

od Kurbatova, Polina, Wendling, Fabrice, Kaminska, Anna, Rosati, Anna, Nabbout, Rima, Guerrini, Renzo, Dulac, Olivier, Pons, Gérard, Cornu, Catherine, Nony, Patrice, Chiron, Catherine, Benquet, Pascal
Wydane w Exp Neurol (2016)

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

od Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie
Wydane 2011

Human Slack potassium channel mutations increase positive cooperativity between individual channels

od Kim, Grace E., Kronengold, Jack, Barcia, Giulia, Quraishi, Imran H., Martin, Hilary C., Blair, Edward, Taylor, Jenny C., Dulac, Olivier, Colleaux, Laurence, Nabbout, Rima, Kaczmarek, Leonard K.
Wydane w Cell Rep (2014)

Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity

od Jammoul, Firas, Wang, Qingping, Nabbout, Rimas, Coriat, Caroline, Duboc, Agnès, Simonutti, Manuel, Dubus, Elisabeth, Craft, Cheryl M., Ye, Wen, Collins, Stephen D., Dulac, Olivier, Chiron, Catherine, Sahel, José A., Picaud, Serge
Wydane 2009

Novel GABRG2 mutations cause familial febrile seizures

od Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie
Wydane w Neurol Genet (2015)

De novo gain of function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

od Barcia, Giulia, Fleming, Matthew R., Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R., Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta, Nitschke, Patrick, Kaminska, Anna, Boddaert, Nathalie, Casanova, Jean-Laurent, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier, Kaczmarek, Leonard K., Colleaux, Laurence, Nabbout, Rima
Wydane 2012

Delineation of the motor disorder of Lesch–Nyhan disease

od Jinnah, H. A., Visser, Jasper E., Harris, James C., Verdu, Alfonso, Larovere, Laura, Ceballos-Picot, Irene, Gonzalez-Alegre, Pedro, Neychev, Vladimir, Torres, Rosa J., Dulac, Olivier, Desguerre, Isabelle, Schretlen, David J., Robey, Kenneth L., Barabas, Gabor, Bloem, Bastiaan R., Nyhan, William, De Kremer, Raquel, Eddey, Gary E., Puig, Juan G., Reich, Stephen G.
Wydane 2006

Linkage and association analysis of CACNG3 in childhood absence epilepsy

od Everett, Kate, Chioza, Barry, Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dulac, Olivier, Eeg-Olofsson, Orvar, Feucht, Martha, Friis, Mogens, Goutieres, Françoise, Guerrini, Renzo, Heils, Armin, Kjeldsen, Marianne, Lehesjoki, Anna-Elina, Makoff, Andrew, Nabbout, Rima, Olsson, Ingrid, Sander, Thomas, Sirén, Auli, McKeigue, Paul, Robinson, Robert, Taske, Nichole, Rees, Michele, Gardiner, Mark
Wydane 2007

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

od Chioza, Barry A., Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dooley, Joseph M., Dulac, Olivier, Durner, Martina, Eeg-Olofsson, Orvar, Feucht, Martha, Friis, Mogens Laue, Guerrini, Renzo, Kjeldsen, Marianne Juel, Nabbout, Rima, Nashef, Lina, Sander, Thomas, Sirén, Auli, Wirrell, Elaine, McKeigue, Paul, Robinson, Robert, Gardiner, R. Mark, Everett, Kate V.
Wydane 2009

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

od Mills, Philippa B., Footitt, Emma J., Mills, Kevin A., Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J., Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G., Hughes, M. Imelda, Struys, Eduard A., Jakobs, Cornelis, Zuberi, Sameer M., Clayton, Peter T.
Wydane 2010

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

od Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima
Wydane 2014

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

od Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain
Wydane w Eur J Hum Genet (2016)

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

od Zillhardt, Julia Lauer, Poirier, Karine, Broix, Loïc, Lebrun, Nicolas, Elmorjani, Adrienne, Martinovic, Jelena, Saillour, Yoann, Muraca, Giuseppe, Nectoux, Juliette, Bessieres, Bettina, Fallet-Bianco, Catherine, Lyonnet, Stanislas, Dulac, Olivier, Odent, Sylvie, Rejeb, Imen, Jemaa, Lamia Ben, Rivier, Francois, Pinson, Lucile, Geneviève, David, Musizzano, Yuri, Bigi, Nicole, Leboucq, Nicolas, Giuliano, Fabienne, Philip, Nicole, Vilain, Catheline, Van Bogaert, Patrick, Maurey, Hélène, Beldjord, Cherif, Artiguenave, François, Boland, Anne, Olaso, Robert, Masson, Cécile, Nitschké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Chelly, Jamel
Wydane w Eur J Hum Genet (2016)

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

od Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo
Wydane w Neurology (2021)