197 results on '"de Bellescize, Julitta"'
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2. Sleep disorders and ADHD symptoms in children and adolescents with typical absence seizures: An observational study
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Thieux, Marine, Duca, Maddalena, Putois, Benjamin, Herbillon, Vania, Cottone, Carlo, Parmeggiani, Antonia, Arzimanoglou, Alexis, de Bellescize, Julitta, and Franco, Patricia
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- 2022
- Full Text
- View/download PDF
3. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
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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, Sacoto, Maria J Guillen, 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, Shamsi, Aisha Mohamed Al, 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, and Küry, Sébastien
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Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Genetics ,Intellectual and Developmental Disabilities (IDD) ,Neurodegenerative ,Neurosciences ,Pediatric ,Rare Diseases ,Brain Disorders ,Autism ,Mental Health ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Adolescent ,Adult ,Aged ,80 and over ,Alleles ,Animals ,Autistic Disorder ,Brain ,Cerebellar Ataxia ,Child ,Child ,Preschool ,DNA Copy Number Variations ,Disease Models ,Animal ,Female ,Genes ,Dominant ,Genetic Complementation Test ,Humans ,Intellectual Disability ,Larva ,Magnetic Resonance Imaging ,Male ,Middle Aged ,Mutation ,Missense ,Nuclear Receptor Subfamily 1 ,Group F ,Member 1 ,Purkinje Cells ,Syndrome ,Zebrafish ,RORA ,autistic features ,cerebellar ataxia ,dual molecular effects ,epilepsy ,intellectual disability ,neurodevelopmental disorder ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. Consistent with the human and mouse data, disruption of the D. rerio ortholog, roraa, causes significant reduction in the size of the developing cerebellum. Systematic in vivo complementation studies showed that, whereas wild-type human RORA mRNA could complement the cerebellar pathology, missense variants had two distinct pathogenic mechanisms of either haploinsufficiency or a dominant toxic effect according to their localization in the ligand-binding or DNA-binding domains, respectively. This dichotomous direction of effect is likely relevant to the phenotype in humans: individuals with loss-of-function variants leading to haploinsufficiency show ID with autistic features, while individuals with de novo dominant toxic variants present with ID, ataxia, and cerebellar atrophy. Our combined genetic and functional data highlight the complex mutational landscape at the human RORA locus and suggest that dual mutational effects likely determine phenotypic outcome.
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- 2018
4. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
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Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, 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 WM, 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 LI, 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 AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, and Retterer, Kyle
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Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Neurosciences ,Brain Disorders ,Genetics ,Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Underpinning research ,1.1 Normal biological development and functioning ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Animals ,Brain ,Calcium-Calmodulin-Dependent Protein Kinase Type 2 ,Cell Line ,Exome ,Female ,Glutamic Acid ,HEK293 Cells ,Humans ,Intellectual Disability ,Male ,Mice ,Mice ,Inbred C57BL ,Mutation ,Neurons ,Phosphorylation ,Signal Transduction ,Undiagnosed Diseases Network ,GEM HUGO ,Deciphering Developmental Disorders Study ,AMPAR ,CAMK2 ,CAMK2A ,CAMK2B ,NMDAR ,de novo mutations ,intellectual disability ,synaptic plasticity ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway.
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- 2017
5. Molecular and Phenotypic Characterization of the RORB-Related Disorder
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Neurologen, Brain, Metabole ziekten patientenzorg, Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M., Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A., Labalme, Audrey, Cuddapah, Vishnu A., Ruggiero, Sarah M., Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O., Helbig, Katherine L., Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A., Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S., Rosenfeld, Jill A., Au, Margaret, Grand, Katheryn, Graham, John M., Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E., Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan, Neurologen, Brain, Metabole ziekten patientenzorg, Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M., Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A., Labalme, Audrey, Cuddapah, Vishnu A., Ruggiero, Sarah M., Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O., Helbig, Katherine L., Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A., Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S., Rosenfeld, Jill A., Au, Margaret, Grand, Katheryn, Graham, John M., Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E., Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, and Lesca, Gaetan
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- 2024
6. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.
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Clara-Hwang, Angela, Stefani, Stefani, Lau, Tracy, Scala, Marcello, Aynekin, Busra, Bernardo, Pia, Madia, Francesca, Bakhtadze, Sophia, Kaiyrzhanov, Rauan, Maroofian, Reza, Zara, Federico, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju, Guliyeva, Ulviyya, Montavont, Alexandra, Poulat, Anne-Lise, Güleç, Ayten, Berger, Colette, Ville, Dorothee M., and de Bellescize, Julitta
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- 2024
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7. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
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Rudolf, Gabrielle, de Bellescize, Julitta, de Saint Martin, Anne, Arzimanoglou, Alexis, Valenti Hirsch, Maria Paola, Labalme, Audrey, Boulay, Clotilde, Simonet, Thomas, Boland, Anne, Deleuze, Jean François, Nitschké, Patrick, Ollivier, Emmanuelle, Sanlaville, Damien, Hirsch, Edouard, Chelly, Jamel, and Lesca, Gaetan
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- 2020
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8. Molecular and Phenotypic Characterization of the RORB-Related Disorder
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Gokce-Samar, Zeynep, primary, Vetro, Annalisa, additional, De Bellescize, Julitta, additional, Pisano, Tiziana, additional, Monteiro, Laloe, additional, Penaud, Noémie, additional, Korff, Christian M., additional, Fluss, Joel, additional, Marini, Carla, additional, Cesaroni, Elisabetta, additional, Alvarez, Blanca Mercedes, additional, Sanlaville, Damien, additional, Chatron, Nicolas, additional, Arzimanoglou, Alexis A., additional, Labalme, Audrey, additional, Cuddapah, Vishnu A., additional, Ruggiero, Sarah M., additional, Lecoquierre, Francois, additional, Nicolas, Gael, additional, Marie, Guerrot Anne, additional, Lebas, Axel, additional, Testard, Herve O., additional, Helbig, Katherine L., additional, Ruiz, Anna, additional, Ngoh, Adeline, additional, Kurian, Manju A., additional, Reid, Kimberley, additional, Spaull, Robert, additional, Joset, Pascal, additional, Ramantani, Georgia, additional, Steindl, Katharina, additional, Krenn, Martin, additional, Gerstl, Lucia, additional, Vieker, Silvia, additional, Craiu, Dana, additional, Pendziwiat, Manuela, additional, Haldeman-Englert, Chad, additional, Kanivets, Ilya, additional, Romanova, Irina, additional, Rajan, Deepa S., additional, Rosenfeld, Jill A., additional, Au, Margaret, additional, Grand, Katheryn, additional, Graham, John M., additional, Isapof, Arnaud, additional, Villeneuve, Nathalie, additional, Smol, Thomas, additional, Caumes, Roseline, additional, Zacher, Pia, additional, Neuser, Sonja, additional, Tinschert, Sigrid, additional, Platzer, Konrad, additional, Bartolomaeus, Tobias, additional, Mohnke, Ines, additional, Radtke, Maximilian, additional, Jamra, Rami Abou, additional, Helbig, Ingo, additional, Jansen, Floortje E., additional, Koop, Klaas, additional, Rudolf, Gabrielle, additional, Küry, Sebastien, additional, Courchet, Julien, additional, Guerrini, Renzo, additional, and Lesca, Gaetan, additional
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- 2023
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9. Predictive factors and prognostic value for status epilepticus in newborns
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Gokce-Samar, Zeynep, Ostrowsky-Coste, Karine, Gauthier-Morel, Dominique, Keo-Kosal, Pascale, De Regnauld De Bellescize, Julitta, Montavont, Alexandra, Panagiotakaki, Eleni, Claris, Olivier, and Arzimanoglou, Alexis
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- 2019
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10. Anti‐seizure effect of MEK inhibitor in a child with neurofibromatosis type 1 ‐ developmental and epileptic encephalopathy and optic pathway glioma
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Barrière, Sarah, primary, Faure‐Conter, Cécile, additional, Leblond, Pierre, additional, Philippe, Michael, additional, des Portes, Vincent, additional, Lion François, Laurence, additional, de Bellescize, Julitta, additional, and Sabatier, Isabelle, additional
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- 2023
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11. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
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Mathieu, Marie-Laure, de Bellescize, Julitta, Till, Marianne, Flurin, Vincent, Labalme, Audrey, Chatron, Nicolas, Sanlaville, Damien, Chemaly, Nicole, des Portes, Vincent, Ostrowsky, Karine, Arzimanoglou, Alexis, and Lesca, Gaëtan
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- 2018
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12. The landscape of epilepsy-related GATOR1 variants
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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, Jr, 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., and Baulac, Stéphanie
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- 2019
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13. Molecular and Phenotypic Characterization of the RORB-Related Disorder.
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Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Korff, Noémie Penaud ;Christian M., Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A., Labalme, Audrey, Cuddapah, Vishnu A., Ruggiero, Sarah M., Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, and Lebas, Axel
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- 2024
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14. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability
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Poulat, Anne-Lise, Ville, Dorothée, de Bellescize, Julitta, André-Obadia, Nathalie, Cacciagli, Pierre, Milh, Mathieu, Villard, Laurent, and Lesca, Gaetan
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- 2015
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15. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
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Boutry-Kryza, Nadia, Labalme, Audrey, Ville, Dorothee, de Bellescize, Julitta, Touraine, Renaud, Prieur, Fabienne, Dimassi, Sarra, Poulat, Anne-Lise, Till, Marianne, Rossi, Massimiliano, Bourel-Ponchel, Emilie, Delignières, Aline, Le Moing, Anne-Gaelle, Rivier, Clotilde, des Portes, Vincent, Edery, Patrick, Calender, Alain, Sanlaville, Damien, and Lesca, Gaetan
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- 2015
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16. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
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Miceli, Francesco, primary, Millevert, Charissa, additional, Soldovieri, Maria Virginia, additional, Mosca, Ilaria, additional, Ambrosino, Paolo, additional, Carotenuto, Lidia, additional, Schrader, Dewi, additional, Lee, Hyun Kyung, additional, Riviello, James, additional, Hong, William, additional, Risen, Sarah, additional, Emrick, Lisa, additional, Amin, Hitha, additional, Ville, Dorothée, additional, Edery, Patrick, additional, de Bellescize, Julitta, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Goizet, Cyril, additional, Willemsen, Marjolein H., additional, Kleefstra, Tjitske, additional, Møller, Rikke S, additional, Bayat, Allan, additional, Devinsky, Orrin, additional, Sands, Tristan, additional, Korenke, G. Christoph, additional, Kluger, Gerhard, additional, Mefford, Heather C., additional, Brilstra, Eva, additional, Lesca, Gaetan, additional, Milh, Mathieu, additional, Cooper, Edward C., additional, Taglialatela, Maurizio, additional, and Weckhuysen, Sarah, additional
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- 2022
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17. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
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Genetica Klinische Genetica, Brain, 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, Genetica Klinische Genetica, Brain, 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, and Weckhuysen, Sarah
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- 2022
18. Behavioral and fMRI responses to fearful faces are altered in benign childhood epilepsy with centrotemporal spikes (BCECTS)
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Ciumas, Carolina, Laurent, Agathe, Saignavongs, Mani, Ilski, Faustine, de Bellescize, Julitta, Panagiotakaki, Eleni, Ostrowsky‐Coste, Karine, Arzimanoglou, Alexis, Herbillon, Vania, Ibarrola, Danielle, and Ryvlin, Philippe
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- 2017
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19. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
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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, and Maljevic, Snezana
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- 2017
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20. Correction: The landscape of epilepsy-related GATOR1 variants
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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 H., 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, 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, 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., and Baulac, Stéphanie
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- 2019
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21. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
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Bonardi, Claudia M, primary, Heyne, Henrike O, additional, Fiannacca, Martina, additional, Fitzgerald, Mark P, additional, Gardella, Elena, additional, Gunning, Boudewijn, additional, Olofsson, Kern, additional, Lesca, Gaétan, additional, Verbeek, Nienke, additional, Stamberger, Hannah, additional, Striano, Pasquale, additional, Zara, Federico, additional, Mancardi, Maria M, additional, Nava, Caroline, additional, Syrbe, Steffen, additional, Buono, Salvatore, additional, Baulac, Stephanie, additional, Coppola, Antonietta, additional, Weckhuysen, Sarah, additional, Schoonjans, An-Sofie, additional, Ceulemans, Berten, additional, Sarret, Catherine, additional, Baumgartner, Tobias, additional, Muhle, Hiltrud, additional, Portes, Vincent des, additional, Toulouse, Joseph, additional, Nougues, Marie-Christine, additional, Rossi, Massimiliano, additional, Demarquay, Geneviève, additional, Ville, Dorothée, additional, Hirsch, Edouard, additional, Maurey, Hélène, additional, Willems, Marjolaine, additional, de Bellescize, Julitta, additional, Altuzarra, Cecilia Desmettre, additional, Villeneuve, Nathalie, additional, Bartolomei, Fabrice, additional, Picard, Fabienne, additional, Hornemann, Frauke, additional, Koolen, David A, additional, Kroes, Hester Y, additional, Reale, Chiara, additional, Fenger, Christina D, additional, Tan, Wen-Hann, additional, Dibbens, Leanne, additional, Bearden, David R, additional, Møller, Rikke S, additional, and Rubboli, Guido, additional
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- 2021
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22. KCNT1-related epilepsies and epileptic encephalopathies:phenotypic and mutational spectrum
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Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., Rubboli, Guido, Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., and Rubboli, Guido
- Abstract
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 previously unpublished and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: (i) EIMFS (152 individuals, 33 previously unpublished); (ii) developmental and epileptic encephalopathies other than EIMFS (non-EIMFS developmental and epileptic encephalopathies) (37 individuals, 17 unpublished); (iii) autosomal dominant or sporadic sleep-related hypermotor epilepsy (53 patients, 14 unpublished); and (iv) other phenotypes (six individuals, two unpublished). In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible onset with West syndrome, occurrence of atypical absences, possible evolution to developmental and epileptic encephalopathies with sleep-related hypermotor epilepsy features; one case of sudden unexplained death in epilepsy; (iii) in autosomal dominant or sporadic sleep-related hypermotor epilepsy, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in ∼50% of the patients, sudden unexplained death in epilepsy
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- 2021
23. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
- Author
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Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido, Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, and Rubboli, Guido
- Published
- 2021
24. Functional connectivity of insular efferences
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Almashaikhi, Talal, Rheims, Sylvain, Jung, Julien, Ostrowsky-Coste, Karine, Montavont, Alexandra, De Bellescize, Julitta, Arzimanoglou, Alexis, Kosal, Pascale Keo, Guénot, Marc, Bertrand, Olivier, and Ryvlin, Philippe
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- 2014
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25. Intrainsular Functional Connectivity in Human
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Almashaikhi, Talal, Rheims, Sylvain, Ostrowsky-Coste, Karine, Montavont, Alexandra, Jung, Julien, De Bellescize, Julitta, Arzimanoglou, Alexis, Keo Kosal, Pascal, Guénot, Marc, Bertrand, Olivier, and Ryvlin, Philippe
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- 2014
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26. White matter development in children with benign childhood epilepsy with centro-temporal spikes
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Ciumas, Carolina, Saignavongs, Mani, Ilski, Faustine, Herbillon, Vania, Laurent, Agathe, Lothe, Amelie, Heckemann, Rolf A., de Bellescize, Julitta, Panagiotakaki, Eleni, Hannoun, Salem, Marinier, Dominique Sappey, Montavont, Alexandra, Ostrowsky-Coste, Karine, Bedoin, Nathalie, and Ryvlin, Philippe
- Published
- 2014
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27. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
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Dimassi, Sarra, Labalme, Audrey, Lesca, Gaetan, Rudolf, Gabrielle, Bruneau, Nadine, Hirsch, Edouard, Arzimanoglou, Alexis, Motte, Jacques, de Saint Martin, Anne, Boutry-Kryza, Nadia, Cloarec, Robin, Benitto, Afaf, Ameil, Agnès, Edery, Patrick, Ryvlin, Philippe, De Bellescize, Julitta, Szepetowski, Pierre, and Sanlaville, Damien
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- 2014
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28. Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
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Descamps, Justine, primary, Ruello, Cyril, additional, Perge, Kevin, additional, de Bellescize, Julitta, additional, Saint-Martin, Cécile, additional, and Nicolino, Marc, additional
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- 2021
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29. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
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Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa, Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, and Tajsharghi, Homa
- Abstract
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1-/- mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele. © The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain., [Additional authors/contributors from:] EuroEpinomics-RES consortium AR working group [see article appendix]
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- 2020
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30. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers
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Weckhuysen, Sarah, Holmgren, Philip, Hendrickx, Rik, Jansen, Anna C., Hasaerts, Daniele, Dielman, Charlotte, de Bellescize, Julitta, Boutry-Kryza, Nadia, Lesca, Gaetan, Spiczak, Sarah Von, Helbig, Ingo, Gill, Deepak, Yendle, Simone, Mller, Rikke S., Klitten, Laura, Korff, Christian, Godfraind, Catherine, Van Rijckevorsel, Kenou, De Jonghe, Peter, Hjalgrim, Helle, Scheffer, Ingrid E., and Suls, Arvid
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- 2013
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31. Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism
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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, and Szepetowski, Pierre
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- 2012
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32. Early‐onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant
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Ville, Dorothée, primary, Lesca, Gaetan, additional, Labalme, Audrey, additional, Portes, Vincent des, additional, Arzimanoglou, Alexis, additional, and de Bellescize, Julitta, additional
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- 2020
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33. Troubles du sommeil, TDAH et absences typiques de l’enfant et de l’adolescent : une étude observationnelle
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Thieux, Marine, primary, Duca, Maddalena, additional, Putois, Benjamin, additional, Herbillon, Vania, additional, Toulouse, Joseph, additional, Panagiotakaki, Eleni, additional, Ilski-Lecoanet, Faustine, additional, De Bellescize, Julitta, additional, Arzimanoglou, Alexis, additional, and Franco, Patricia, additional
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- 2020
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34. Neural correlates of verbal working memory in children with epilepsy with centro-temporal spikes
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Ciumas, Carolina, primary, Montavont, Alexandra, additional, Ilski, Faustine, additional, Laurent, Agathe, additional, Saignavongs, Mani, additional, Lachaux, Jean-Philippe, additional, de Bellescize, Julitta, additional, Panagiotakaki, Eleni, additional, Ostrowsky-Coste, Karine, additional, Herbillon, Vania, additional, Ibarrola, Danielle, additional, Hermier, Marc, additional, Arzimanoglou, Alexis, additional, and Ryvlin, Philippe, additional
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- 2020
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35. Ring 14 chromosome presenting as early-onset isolated partial epilepsy
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VILLE, DOROTHÉE, DE BELLESCIZE, JULITTA, NGUYEN, MARIE ANGE, TESTARD, HERVÉ, GAUTIER, AGNÈS, PERRIER, JULIE, TILL, MARIANNE, and DES PORTES, VINCENT
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- 2009
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36. Erratum:Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in medicine : official journal of the American College of Medical Genetics (2019) 21 2 (398-408))
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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 H., 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, 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, 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., and Baulac, Stéphanie
- Abstract
The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.
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- 2019
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37. GRIN2A-related disorders : genotype and functional consequence predict phenotype
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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., GRIN2A study group, 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., and GRIN2A study group
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- 2019
38. The landscape of epilepsy-related GATOR1 variants
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Genetica, Genetica Klinische Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Child Health, ZL Kinder Ner en Nec Medisch, 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, Genetica, Genetica Klinische Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Child Health, ZL Kinder Ner en Nec Medisch, 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., and Baulac, Stéphanie
- Published
- 2019
39. GRIN2A-related disorders: genotype and functional consequence predict phenotype
- Author
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UMC Utrecht, Genetica Klinische Genetica, Brain, 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., GRIN2A study group, UMC Utrecht, Genetica Klinische Genetica, Brain, 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., and GRIN2A study group
- Published
- 2019
40. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)
- Author
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Olson, Heather E., Jean-Marcais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R. F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., El Achkar, Christelle Moufawad, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., van de Putte, Dietje E. Fransen, Ruivenkamp, Claudia A. L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Riviere, Jean-Baptiste, Vitobello, Antonio, Mau-Them, Frerdric Tran, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., and Schuurs-Hoeijmakers, Janneke
- Published
- 2018
41. Troubles de l’attention et impact des anomalies électroencéphalographiques paroxystiques intercritiques dans les épilepsies de l’enfant : présentation d’un nouveau test d’attention soutenue synchronisé à l’EEG
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Herbillon, Vania, De Bellescize, Julitta, Gerard, Daniel, THIEUX, Marine, Bouet, Romain, Jung, Julien, Perrone-Bertolotti, Marcela, Uginet, Clémentine, Arzimanoglou, Alexis, Kahane, Philippe, Lachaux, Jean-Philippe, Service d’épileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle chez l’enfant, Centre de référence des Épilepsies Rares et Centre Européen EpiCARE, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France., Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Psychopathologie du développement de l’enfant et de l’adolescent, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France, Service d’épileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle chez l’enfant, Centre de référence des Épilepsies Rares et Centre Européen EpiCARE, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France, Laboratoire de Psychologie et NeuroCognition (LPNC ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Unité d’Épilepsie et Malaises Neurologiques, Pavillon de Neurologie, Centre Hospitalier Universitaire, Grenoble, France (CHUGA), Dynamique Cérébrale et Cognition, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), INSERM U836, équipe 9, Dynamique des réseaux synchrones épileptiques, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Unité d’Épilepsie et Malaises Neurologiques, Pavillon de Neurologie, Centre Hospitalier Universitaire, Grenoble, France
- Subjects
[SCCO.PSYC]Cognitive science/Psychology ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2018
42. BLAST paradigm: A new test to assess brief attentional fluctuations in children with epilepsy, ADHD, and normally developing children
- Author
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Thieux, Marine, primary, Jung, Julien, additional, Bouet, Romain, additional, Gerard, Daniel, additional, Bauer, Prisca R., additional, Bertrand, Olivier, additional, Perrone-Bertolotti, Marcela, additional, Arzimanoglou, Alexis, additional, Kahane, Philippe, additional, Lachaux, Jean-Philippe, additional, De Bellescize, Julitta, additional, and Herbillon, Vania, additional
- Published
- 2019
- Full Text
- View/download PDF
43. Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation
- Author
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Zimmern, Vincent, additional, Riant, Florence, additional, Roze, Emmanuel, additional, Ranza, Emmanuelle, additional, Lehmann-Horn, Frank, additional, de Bellescize, Julitta, additional, Ville, Dorothée, additional, Lesca, Gaetan, additional, and Korff, Christian M., additional
- Published
- 2019
- Full Text
- View/download PDF
44. Myoclonic epilepsy in infancy: one or two diseases?
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Auvin, Stéphane, de Bellescize, Julitta, and Dravet, Charlotte
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- 2013
- Full Text
- View/download PDF
45. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
- Author
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Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, and DDD Study
- Published
- 2018
46. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
- Author
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Genetica Klinische Genetica, Cancer, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study, Genetica Klinische Genetica, Cancer, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, and DDD Study
- Published
- 2018
47. Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy
- Author
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Pons, Linda, additional, Lesca, Gaëtan, additional, Sanlaville, Damien, additional, Chatron, Nicolas, additional, Labalme, Audrey, additional, Manel, Véronique, additional, Arzimanoglou, Alexis, additional, de Bellescize, Julitta, additional, and Lion-François, Laurence, additional
- Published
- 2018
- Full Text
- View/download PDF
48. SEEG in ... Family
- Author
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Panagiotakaki, Eleni, additional, De Bellescize, Julitta, additional, Catenoix, Hélène, additional, Lesca, Gaetan, additional, Thevenon, Julien, additional, and Arzimanoglou, Alexis, additional
- Published
- 2018
- Full Text
- View/download PDF
49. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
- Author
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Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C, Cho, Megan T., Prescott, Trine E, Ploeg, Melissa A, Sanders, Jan-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, Verbeek, Nienke E, Undiagnosed Diseases Network, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C, Cho, Megan T., Prescott, Trine E, Ploeg, Melissa A, Sanders, Jan-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, Verbeek, Nienke E, and Undiagnosed Diseases Network
- Published
- 2017
50. Correlation between sleep disorders and ADHD in children with absence epilepsy: An observational study
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Duca, Maddalena, primary, Cottone, Carlo, additional, Maltoni, Lucia, additional, Migliori, Matteo, additional, Parmeggiani, Antonia, additional, Franzoni, Emilio, additional, Nollace, Leslie, additional, Herbillon, Vania, additional, Ilski-Lecoanet, Faustine, additional, De Bellescize, Julitta, additional, Panagiotakaki, Eleni, additional, Franco, Patricia, additional, and Arzimanoglou, Alexis, additional
- Published
- 2017
- Full Text
- View/download PDF
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