Výsledky vyhledávání - Milh, Mathieu

Cell domain-dependent changes in the glutamatergic and GABAergic drives during epileptogenesis in the rat CA1 region Autor El-Hassar, Lynda, Milh, Mathieu, Wendling, Fabrice, Ferrand, Nadine, Esclapez, Monique, Bernard, Christophe

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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient Autor Abidi, Affef, Mignon-Ravix, Cécile, Cacciagli, Pierre, Girard, Nadine, Milh, Mathieu, Villard, Laurent

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Ongoing Epileptiform Activity in the Post-Ischemic Hippocampus Is Associated with a Permanent Shift of the Excitatory–Inhibitory Synaptic Balance in CA3 Pyramidal Neurons Autor Epsztein, Jérôme, Milh, Mathieu, Id Bihi, Rachid, Jorquera, Isabel, Ben-Ari, Yehezkel, Represa, Alfonso, Crépel, Valérie

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Open‐label study to investigate the safety and efficacy of adjunctive perampanel in pediatric patients (4 to <12 years) with inadequately controlled focal seizures or generalized t... Autor Fogarasi, Andras, Flamini, Robert, Milh, Mathieu, Phillips, Steven, Yoshitomi, Shinsaku, Patten, Anna, Takase, Takao, Laurenza, Antonio, Ngo, Leock Y.

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A conserved switch in sensory processing prepares developing neocortex for vision Autor Colonnese, Matthew T., Kaminska, Anna, Minlebaev, Marat, Milh, Mathieu, Bloem, Bernard, Lescure, Sandra, Moriette, Guy, Chiron, Catherine, Ben-Ari, Yehezkel, Khazipov, Rustem

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Auditory Stimuli Mimicking Ambient Sounds Drive Temporal “Delta-Brushes” in Premature Infants Autor Chipaux, Mathilde, Colonnese, Matthew T., Mauguen, Audrey, Fellous, Laure, Mokhtari, Mostafa, Lezcano, Oscar, Milh, Mathieu, Dulac, Olivier, Chiron, Catherine, Khazipov, Rustem, Kaminska, Anna

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Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures Autor Franz, David N., Lawson, John A., Yapici, Zuhal, Brandt, Christian, Kohrman, Michael H., Wong, Michael, Milh, Mathieu, Wiemer‐Kruel, Adelheid, Voi, Maurizio, Coello, Neva, Cheung, Wing, Grosch, Kai, French, Jacqueline A.

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A knock‐in mouse model for KCNQ2‐related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment Autor Milh, Mathieu, Roubertoux, Pierre, Biba, Najoua, Chavany, Julie, Spiga Ghata, Adeline, Fulachier, Camille, Collins, Stephan Christopher, Wagner, Christel, Roux, Jean‐Christophe, Yalcin, Binnaz, Félix, Marie‐Solenne, Molinari, Florence, Lenck‐Santini, Pierre‐Pascal, Villard, Laurent

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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder Autor Srivastava, Siddharth, Macke, Erica L., Swanson, Lindsay C., Coulter, David, Klee, Eric W., Mullegama, Sureni V., Xie, Yili, Lanpher, Brendan C., Bedoukian, Emma C., Skraban, Cara M., Villard, Laurent, Milh, Mathieu, Leppert, Mary L. O., Cohen, Julie S.

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Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study Autor D'Onofrio, Gianluca, Kuchenbuch, Mathieu, Hachon-Le Camus, Caroline, Desnous, Béatrice, Staath, Véronique, Napuri, Sylvia, Ville, Dorothée, Pedespan, Jean-Michel, Lépine, Anne, Cances, Claude, de Saint-Martin, Anne, Teng, Théo, Chemaly, Nicole, Milh, Mathieu, Villeneuve, Nathalie, Nabbout, Rima

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Depolarizing Actions of GABA in Immature Neurons Depend Neither on Ketone Bodies Nor on Pyruvate Autor Tyzio, Roman, Allene, Camille, Nardou, Romain, Picardo, Michel A., Yamamoto, Sumii, Sivakumaran, Sudhir, Caiati, Maddalena D., Rheims, Sylvain, Minlebaev, Marat, Milh, Mathieu, Ferré, Pascal, Khazipov, Rustem, Romette, Jean-Louis, Lorquin, Jean, Cossart, Rosa, Khalilov, Ilgam, Nehlig, Astrid, Cherubini, Enrico, Ben-Ari, Yehezkel

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient Autor Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana

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Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability Autor Barcia, Giulia, Chemaly, Nicole, Kuchenbuch, Mathieu, Eisermann, Monika, Gobin-Limballe, Stéphanie, Ciorna, Viorica, Macaya, Alfons, Lambert, Laetitia, Dubois, Fanny, Doummar, Diane, Billette de Villemeur, Thierry, Villeneuve, Nathalie, Barthez, Marie-Anne, Nava, Caroline, Boddaert, Nathalie, Kaminska, Anna, Bahi-Buisson, Nadia, Milh, Mathieu, Auvin, Stéphane, Bonnefont, Jean-Paul, Nabbout, Rima

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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 Autor Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent

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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Autor Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra, Sanlaville, Damien, Villeneuve, Nathalie, Darmency-Stamboul, Véronique, Toutain, Annick, Lefebvre, Mathilde, Chouchane, Mondher, Huet, Frédéric, Lafon, Arnaud, de Saint Martin, Anne, Lesca, Gaetan, El Chehadeh, Salima, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, Odent, Sylvie, Villard, Laurent, Philippe, Christophe, Faivre, Laurence, Rivière, Jean-Baptiste

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Autor Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Hanan, Jouan, Thibaud, Duffourd, Yannis, Auvin, Stéphane, Saunier, Aline, Begtrup, Amber, Nowak, Catherine, Chatron, Nicolas, Ville, Dorothée, Mireskandari, Kamiar, Milani, Paolo, Jonveaux, Philippe, Lemeur, Guylène, Milh, Mathieu, Amamoto, Masano, Kato, Mitsuhiro, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi, Masri, Amira, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Autor Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Autor Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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Defining the phenotype of FHF1 developmental and epileptic encephalopathy Autor Trivisano, Marina, Ferretti, Alessandro, Bebin, Elizabeth, Huh, Linda, Lesca, Gaetan, Siekierska, Aleksandra, Takeguchi, Ryo, Carneiro, Maryline, De Palma, Luca, Guella, Ilaria, Haginoya, Kazuhiro, Shi, Ruo Ming, Kikuchi, Atsuo, Kobayashi, Tomoko, Jung, Julien, Lagae, Lieven, Milh, Mathieu, Mathieu, Marie L, Minassian, Berge A, Novelli, Antonio, Pietrafusa, Nicola, Takeshita, Eri, Tartaglia, Marco, Terracciano, Alessandra, Thompson, Michelle L, Cooper, Gregory M, Vigevano, Federico, Villard, Laurent, Villeneuve, Nathalie, Buyse, Gunnar M, Demos, Michelle, Scheffer, Ingrid E, Specchio, Nicola

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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism Autor Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H., Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G. Christoph, Kluger, Gerhard, Mefford, Heather C., Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C., Taglialatela, Maurizio, Weckhuysen, Sarah

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