Search Results - "Hirsch, Edouard"

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    Mutations of DEPDC5 cause autosomal dominant focal epilepsies by Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline, Wolff, Markus, Marescaux, Christian, Miles, Richard, Baulac, Michel, Hirsch, Edouard, Leguern, Eric, Baulac, Stéphanie

    Published in Nature genetics (01-05-2013)
    “…Stéphanie Baulac and colleagues report the identification of mutations in the DEPDC5 gene that cause focal epilepsies. The main familial focal epilepsies are…”
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    Journal Article
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    The landscape of epilepsy-related GATOR1 variants by Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie

    Published in Genetics in medicine (01-02-2019)
    “…Purpose To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5 , NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative…”
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    Hypothalamic hamartoma: Epileptogenesis beyond the lesion? by Scholly, Julia, Staack, Anke Maren, Kahane, Philippe, Scavarda, Didier, Régis, Jean, Hirsch, Edouard, Bartolomei, Fabrice

    Published in Epilepsia (Copenhagen) (01-06-2017)
    “…Summary The discovery of intrinsic epileptogenicity of the hypothalamic hamartoma (HH) marked a new area in understanding the associated clinical syndrome,…”
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    Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutations by Lesca, Gaetan, M⊘ller, Rikke S., Rudolf, Gabrielle, Hirsch, Edouard, Hjalgrim, Helle, Szepetowski, Pierre

    Published in Epileptic disorders (01-06-2019)
    “…Formerly idiopathic, focal epilepsies (IFE) are self‐limiting, “age‐related” diseases that mainly occur during critical developmental periods. Childhood…”
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    Nocturnal Hypermotor Seizures, Suggesting Frontal Lobe Epilepsy, Can Originate in the Insula by Ryvlin, Philippe, Minotti, Lorella, Demarquay, Geneviève, Hirsch, Edouard, Arzimanoglou, Alexis, Hoffman, Dominique, Guénot, Marc, Picard, Fabienne, Rheims, Sylvain, Kahane, Philippe

    Published in Epilepsia (Copenhagen) (01-04-2006)
    “…Purpose: To report three patients with drug‐resistant nocturnal hypermotor seizures (NHSs), no detectable brain lesion, and clinically defined nocturnal…”
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    Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex by Roll, Patrice, Vernes, Sonja C., Bruneau, Nadine, Cillario, Jennifer, Ponsole-Lenfant, Magali, Massacrier, Annick, Rudolf, Gabrielle, Khalife, Manal, Hirsch, Edouard, Fisher, Simon E., Szepetowski, Pierre

    Published in Human molecular genetics (15-12-2010)
    “…It is a challenge to identify the molecular networks contributing to the neural basis of human speech. Mutations in transcription factor FOXP2 cause…”
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    Hypothalamic hamartoma: Is the epileptogenic zone always hypothalamic? Arguments for independent (third stage) secondary epileptogenesis by Scholly, Julia, Valenti, Maria‐Paola, Staack, Anke M., Strobl, Karl, Bast, Thomas, Kehrli, Pierre, Steinhoff, Bernhard J., Hirsch, Edouard

    Published in Epilepsia (Copenhagen) (01-12-2013)
    “…Summary Gelastic seizures associated with hypothalamic hamartomas (HHs) are a clinicoradiologic syndrome presenting with a variety of symptoms, including…”
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