Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures
Denis, Julien, Villeneuve, Nathalie, Cacciagli, Pierre, Mignon‐Ravix, Cecile, Lacoste, Caroline, Lefranc, Jeremie, Napuri, Sylvia, Damaj, Lena, Villega, Frederic, Pedespan, Jean‐Michel, Moutton, Sebastien, Mignot, Cyril, Doummar, Diane, Lion‐François, Laurence, Gataullina, Svetlana, Dulac, Olivier, Martin, Melanie, Gueden, Sophie, Lesca, Gaetan, Julia, Sophie, Cances, Claude, Journel, Hubert, Altuzarra, Cecilia, Ben Zeev, Bruria, Afenjar, Alexandra, Barth, Magalie, Villard, Laurent, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge–Weber syndrome
Bar, Claire, Pedespan, Jean‐Michel, Boccara, Olivia, Garcelon, Nicolas, Levy, Raphael, Grévent, David, Boddaert, Nathalie, Nabbout, Rima
Published in Developmental medicine and child neurology (01.02.2020)
Published in Developmental medicine and child neurology (01.02.2020)
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Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect
Fiévet, Alice, Bellanger, Dorine, Valence, Stéphanie, Mobuchon, Lenha, Afenjar, Alexandra, Giuliano, Fabienne, Dubois d'Enghien, Catherine, Parfait, Béatrice, Pedespan, Jean‐Michel, Auger, Nathalie, Rieunier, Guillaume, Collet, Agnès, Burglen, Lydie, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders
Lacombe, Didier, Van-Gils, Julien, Lebrun, Marine, Trimouille, Aurélien, Michaud, Vincent, Cabet, Sara, Chateil, Jean-François, Pedespan, Jean-Michel, Bar, Claire, Lesca, Gaetan
Published in Brain & development (Tokyo. 1979) (01.09.2022)
Published in Brain & development (Tokyo. 1979) (01.09.2022)
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Visual sensory processing is altered in myoclonus dystonia
Tarrano, Clément, Wattiez, Nicolas, Delorme, Cécile, McGovern, Eavan M., Brochard, Vanessa, Thobois, Stéphane, Tranchant, Christine, Grabli, David, Degos, Bertrand, Corvol, Jean‐Christophe, Pedespan, Jean‐Michel, Krystkoviak, Pierre, Houeto, Jean‐Luc, Degardin, Adrian, Defebvre, Luc, Valabrègue, Romain, Vidailhet, Marie, Pouget, Pierre, Roze, Emmanuel, Worbe, Yulia
Published in Movement disorders (01.01.2020)
Published in Movement disorders (01.01.2020)
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DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility
Fiévet, Alice, Bellanger, Dorine, Zahed, Laila, Burglen, Lydie, Derrien, Anne‐Céline, Dubois d'Enghien, Catherine, Lespinasse, James, Parfait, Béatrice, Pedespan, Jean‐Michel, Rieunier, Guillaume, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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Tactile Temporal Discrimination Is Impaired in Myoclonus‐Dystonia
Tarrano, Clément, Lamy, Jean‐Charles, Delorme, Cécile, McGovern, Eavan M., Atkinson‐Clement, Cyril, Brochard, Vanessa, Thobois, Stéphane, Tranchant, Christine, Grabli, David, Degos, Bertrand, Corvol, Jean‐Christophe, Pedespan, Jean‐Michel, Krystkoviak, Pierre, Houeto, Jean‐Luc, Degardin, Adrian, Defebvre, Luc, Apartis, Emmanuelle, Vidailhet, Marie, Roze, Emmanuel, Worbe, Yulia
Published in Movement disorders (01.12.2020)
Published in Movement disorders (01.12.2020)
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Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
Aloui, Chaker, Guey, Stéphanie, Pipiras, Eva, Kossorotoff, Manoelle, Guéden, Sophie, Corpechot, Michaelle, Bessou, Pierre, Pedespan, Jean-Michel, Husson, Marie, Hervé, Dominique, Riant, Florence, Kraemer, Markus, Steffann, Julie, Quenez, Olivier, Tournier-Lasserve, Elisabeth
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
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Epilepsy in young Tsc1+/− mice exhibits age‐dependent expression that mimics that of human tuberous sclerosis complex
Gataullina, Svetlana, Lemaire, Eric, Wendling, Fabrice, Kaminska, Anna, Watrin, Françoise, Riquet, Audrey, Ville, Dorothée, Moutard, Marie‐Laure, Saint Martin, Anne, Napuri, Silvia, Pedespan, Jean‐Michel, Eisermann, Monika, Bahi‐Buisson, Nadia, Nabbout, Rima, Chiron, Catherine, Dulac, Olivier, Huberfeld, Gilles
Published in Epilepsia (Copenhagen) (01.04.2016)
Published in Epilepsia (Copenhagen) (01.04.2016)
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Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome
Sweney, Matthew T, Silver, Kenneth, Gerard-Blanluet, Marion, Pedespan, Jean-Michel, Renault, Francis, Arzimanoglou, Alexis, Schlesinger-Massart, Mylynda, Lewelt, Aga J, Reyna, Sandra P, Swoboda, Kathryn J
Published in Pediatrics (Evanston) (01.03.2009)
Published in Pediatrics (Evanston) (01.03.2009)
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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
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
Published in Frontiers in neurology (12.08.2020)
Published in Frontiers in neurology (12.08.2020)
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EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex
Fogarasi, Andras, De Waele, Liesbeth, Bartalini, Gabriella, Jozwiak, Sergiusz, Laforgia, Nicola, Verhelst, Helene, Petrak, Borivoj, Pedespan, Jean-Michel, Witt, Olaf, Castellana, Ramon, Crippa, Stefania, Gislimberti, Gabriella, Gyorsok, Zsuzsanna
Published in BMC neurology (08.08.2016)
Published in BMC neurology (08.08.2016)
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Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia
Atkinson-Clement, Cyril, Tarrano, Clement, Porte, Camille-Albane, Wattiez, Nicolas, Delorme, Cécile, McGovern, Eavan M., Brochard, Vanessa, Thobois, Stéphane, Tranchant, Christine, Grabli, David, Degos, Bertrand, Corvol, Jean-Christophe, Pedespan, Jean-Michel, Krystkoviak, Pierre, Houeto, Jean-Luc, Degardin, Adrian, Defebvre, Luc, Valabregue, Romain, Rosso, Charlotte, Apartis, Emmanuelle, Vidailhet, Marie, Pouget, Pierre, Roze, Emmanuel, Worbe, Yulia
Published in Scientific reports (18.08.2020)
Published in Scientific reports (18.08.2020)
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Childhood CIDP: Study of 31 patients and comparison between slow and rapid-onset groups
Cabasson, Sébastien, Tardieu, Marc, Meunier, Ariane, Rouanet-Larriviere, Marie-France, Boulay, Christophe, Pedespan, Jean-Michel
Published in Brain & development (Tokyo. 1979) (01.11.2015)
Published in Brain & development (Tokyo. 1979) (01.11.2015)
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
VEZAIN, Myriam, SAUGIER-VEBER, Pascale, BOU, Jacqueline, FREBOURG, Thierry, TOSI, Mario, MELKI, Judith, TOUTAIN, Annick, BIETH, Eric, HUSSON, Marie, PEDESPAN, Jean-Michel, VIOLLET, Louis, PENISSON-BESNIER, Isabelle, FEHRENBACH, Séverine
Published in European journal of human genetics : EJHG (01.10.2007)
Published in European journal of human genetics : EJHG (01.10.2007)
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Topiramate: efficacy and tolerability in children according to epilepsy syndromes
Mikaeloff, Yann, Saint-Martin, Anne de, Mancini, Josette, Peudenier, Sylviane, Pedespan, Jean-Michel, Vallée, Louis, Motte, Jacques, Bourgeois, Marie, Arzimanoglou, Alexis, Dulac, Olivier, Chiron, Catherine
Published in Epilepsy research (01.03.2003)
Published in Epilepsy research (01.03.2003)
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