Predictive factors and prognostic value for status epilepticus in newborns
Gokce-Samar, Zeynep, Ostrowsky-Coste, Karine, Gauthier-Morel, Dominique, Keo-Kosal, Pascale, De Regnauld De Bellescize, Julitta, Montavont, Alexandra, Panagiotakaki, Eleni, Claris, Olivier, Arzimanoglou, Alexis
Published in European journal of paediatric neurology (01.03.2019)
Published in European journal of paediatric neurology (01.03.2019)
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Journal Article
Functional connectivity of insular efferences
Almashaikhi, Talal, Rheims, Sylvain, Jung, Julien, Ostrowsky-Coste, Karine, Montavont, Alexandra, De Bellescize, Julitta, Arzimanoglou, Alexis, Keo Kosal, Pascale, Guénot, Marc, Bertrand, Olivier, Ryvlin, Philippe
Published in Human brain mapping (01.10.2014)
Published in Human brain mapping (01.10.2014)
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Journal Article
Early‐onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant
Ville, Dorothée, Lesca, Gaetan, Labalme, Audrey, Portes, Vincent des, Arzimanoglou, Alexis, Bellescize, Julitta
Published in Epileptic disorders (01.06.2020)
Published in Epileptic disorders (01.06.2020)
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Journal Article
Intrainsular functional connectivity in human
Almashaikhi, Talal, Rheims, Sylvain, Ostrowsky-Coste, Karine, Montavont, Alexandra, Jung, Julien, De Bellescize, Julitta, Arzimanoglou, Alexis, Keo Kosal, Pascal, Guénot, Marc, Bertrand, Olivier, Ryvlin, Philippe
Published in Human brain mapping (01.06.2014)
Published in Human brain mapping (01.06.2014)
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Journal Article
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
Dimassi, Sarra, Labalme, Audrey, Lesca, Gaetan, Rudolf, Gabrielle, Bruneau, Nadine, Hirsch, Edouard, Arzimanoglou, Alexis, Motte, Jacques, Saint Martin, Anne, Boutry‐Kryza, Nadia, Cloarec, Robin, Benitto, Afaf, Ameil, Agnès, Edery, Patrick, Ryvlin, Philippe, De Bellescize, Julitta, Szepetowski, Pierre, Sanlaville, Damien
Published in Epilepsia (Copenhagen) (01.02.2014)
Published in Epilepsia (Copenhagen) (01.02.2014)
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Journal Article
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
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
Published in EBioMedicine (01.07.2022)
Published in EBioMedicine (01.07.2022)
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Neural correlates of verbal working memory in children with epilepsy with centro-temporal spikes
Ciumas, Carolina, Montavont, Alexandra, Ilski, Faustine, Laurent, Agathe, Saignavongs, Mani, Lachaux, Jean-Philippe, de Bellescize, Julitta, Panagiotakaki, Eleni, Ostrowsky-Coste, Karine, Herbillon, Vania, Ibarrola, Danielle, Hermier, Marc, Arzimanoglou, Alexis, Ryvlin, Philippe
Published in NeuroImage clinical (01.01.2020)
Published in NeuroImage clinical (01.01.2020)
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Journal Article
Correction to: The landscape of epilepsy-related GATOR1 variants
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, Martin, Anne de Saint, 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, Braun, Kees, Jong, Daniëlle de, 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, NordliJr, 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, Bellescize, Julitta de, 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 (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Epileptic encephalopathy caused by BRAT1 mutations: Description of a novel patient
Putoux, Audrey, Chatron, Nicolas, Eyraud-Rousselle, Anne-Sophie, Labalme, Audrey, Streichenberger, Nathalie, Meyronet, David, De-Regnauld-De-Bellescize, Julitta, Sanlaville, Damien, Edery, Patrick, Lesca, Gaëtan
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
Lesca, Gaetan, Rudolf, Gabrielle, Bruneau, Nadine, Lozovaya, Natalia, Labalme, Audrey, Boutry-Kryza, Nadia, Salmi, Manal, Tsintsadze, Timur, Addis, Laura, Motte, Jacques, Wright, Sukhvir, Tsintsadze, Vera, Michel, Anne, Doummar, Diane, Lascelles, Karine, Strug, Lisa, Waters, Patrick, de Bellescize, Julitta, Vrielynck, Pascal, de Saint Martin, Anne, Ville, Dorothee, Ryvlin, Philippe, Arzimanoglou, Alexis, Hirsch, Edouard, Vincent, Angela, Pal, Deb, Burnashev, Nail, Sanlaville, Damien, Szepetowski, Pierre
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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Journal Article
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R
Published in Brain (London, England : 1878) (01.01.2019)
Published in Brain (London, England : 1878) (01.01.2019)
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Journal Article
The landscape of epilepsy-related GATOR1 variants
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)
Published in Genetics in medicine (01.02.2019)
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Sleep disorders and ADHD symptoms in children and adolescents with typical absence seizures: An observational study
Thieux, Marine, Duca, Maddalena, Putois, Benjamin, Herbillon, Vania, Cottone, Carlo, Parmeggiani, Antonia, Arzimanoglou, Alexis, de Bellescize, Julitta, Franco, Patricia
Published in Epilepsy & behavior (01.03.2022)
Published in Epilepsy & behavior (01.03.2022)
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Journal Article
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Mercier, Sandra
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
Picard, Fabienne, Makrythanasis, Periklis, Navarro, Vincent, Ishida, Saeko, de Bellescize, Julitta, Ville, Dorothée, Weckhuysen, Sarah, Fosselle, Erwin, Suls, Arvid, De Jonghe, Peter, Vasselon Raina, Maryline, Lesca, Gaetan, Depienne, Christel, An-Gourfinkel, Isabelle, Vlaicu, Mihaela, Baulac, Michel, Mundwiller, Emeline, Couarch, Philippe, Combi, Romina, Ferini-Strambi, Luigi, Gambardella, Antonio, Antonarakis, Stylianos E, Leguern, Eric, Steinlein, Ortrud, Baulac, Stéphanie
Published in Neurology (10.06.2014)
Published in Neurology (10.06.2014)
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Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism
Lesca, Gaetan, Rudolf, Gabrielle, Labalme, Audrey, Hirsch, Edouard, Arzimanoglou, Alexis, Genton, Pierre, Motte, Jacques, de Saint Martin, Anne, Valenti, Maria-Paola, Boulay, Clotilde, De Bellescize, Julitta, Kéo-Kosal, Pascale, Boutry-Kryza, Nadia, Edery, Patrick, Sanlaville, Damien, Szepetowski, Pierre
Published in Epilepsia (Copenhagen) (01.09.2012)
Published in Epilepsia (Copenhagen) (01.09.2012)
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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
Møller, Rikke S, Wuttke, Thomas V, Helbig, Ingo, Marini, Carla, Johannesen, Katrine M, Brilstra, Eva H, Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L, Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T, Larsen, Line H G, Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L, Dahl, Hans A, Tommerup, Niels, Mefford, Heather C, Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R, Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana
Published in Neurology (31.01.2017)
Published in Neurology (31.01.2017)
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Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
Descamps, Justine, Ruello, Cyril, Perge, Kevin, de Bellescize, Julitta, Saint-Martin, Cécile, Nicolino, Marc
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
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Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation
Zimmern, Vincent, Riant, Florence, Roze, Emmanuel, Ranza, Emmanuelle, Lehmann-Horn, Frank, de Bellescize, Julitta, Ville, Dorothée, Lesca, Gaetan, Korff, Christian M
Published in Neuropediatrics (01.10.2019)
Published in Neuropediatrics (01.10.2019)
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E., Pasquier, Laurent, Küry, Sébastien
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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