المؤلفون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, McDonald, Kimberly, Baker, Janice, Bhambhani, Vikas, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

المساهمون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, Mcdonald, Kimberly, Baker, Janice, Bhambhani, Vika, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andrea, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

مصطلحات موضوعية: ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; journal:BRAIN; http://hdl.handle.net/11573/1649454Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142145538

الإتاحة: https://doi.org/10.1093/brain/awac145Test
http://hdl.handle.net/11573/1649454Test

المؤلفون: Moller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., van Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, Dibbens, Leanne M.

المصدر: Moller , R S , Heron , S E , Larsen , L H G , Lim , C X , Ricos , M G , Bayly , M A , van Kempen , M J A , Klinkenberg , S , Andrews , I , Kelley , K , Ronen , G M , Callen , D , McMahon , J M , Yendle , S C , Carvill , G L , Mefford , H C , Nabbout , R , Poduri , A , Striano , P , Baglietto , M G , Zara , F ....

مصطلحات موضوعية: KCNT1, Autosomal dominant nocturnal frontal lobe epilepsy, Epileptic encephalopathy, Cardiac arrhythmia, Sudden unexpected death in epilepsy

الإتاحة: https://doi.org/10.1111/epi.13071Test
https://cris.maastrichtuniversity.nl/en/publications/03d8cf1d-c65f-465d-9dcd-548b6ae4510dTest

المؤلفون: Nabbout, Rima, Chemaly, Nicole, Chipaux, Mathilde, Barcia, Giulia, Bouis, Charles, Dubouch, Celia, Leunen, Dorothee, Jambaqué, Isabelle, Dulac, Olivier, Dellatolas, Georges, Chiron, Catherine

المساهمون: Service de Neurologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de Reference Epilepsies Rares-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Epilepsies de l'Enfant et Plasticité Cérébrale (U1129), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Troubles du comportement alimentaire de l'adolescent (UMR_S 669), Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00915201Test ; Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.176. ⟨10.1186/1750-1172-8-176⟩.

مصطلحات موضوعية: Dravet syndrome, Epileptic encephalopathy, Psychomotor delay, Cognitive outcome, SCN1A mutation, DQ, IQ, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24225340; inserm-00915201; https://inserm.hal.science/inserm-00915201Test; https://inserm.hal.science/inserm-00915201/documentTest; https://inserm.hal.science/inserm-00915201/file/1750-1172-8-176.pdfTest; PUBMED: 24225340

الإتاحة: https://doi.org/10.1186/1750-1172-8-176Test
https://inserm.hal.science/inserm-00915201Test
https://inserm.hal.science/inserm-00915201/documentTest
https://inserm.hal.science/inserm-00915201/file/1750-1172-8-176.pdfTest

المؤلفون: Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen EH, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel

المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, IQSEC2, X-linked inheritance, epilepsy, intellectual disability, isoforms, X-CHROMOSOME INACTIVATION, DE-NOVO MUTATIONS, NUCLEOTIDE EXCHANGE FACTOR, EPILEPTIC ENCEPHALOPATHY, POSTSYNAPTIC DENSITY, GENE, ESCAPE, EXPRESSION

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8611669Test; http://hdl.handle.net/1854/LU-8611669Test; http://dx.doi.org/10.1038/s41436-018-0268-1Test; https://biblio.ugent.be/publication/8611669/file/8611670Test

الإتاحة: https://doi.org/10.1038/s41436-018-0268-1Test
https://biblio.ugent.be/publication/8611669Test
http://hdl.handle.net/1854/LU-8611669Test
https://biblio.ugent.be/publication/8611669/file/8611670Test

المؤلفون: Koh, Sookyong, Wirrell, Elaine, Vezzani, Annamaria, Nabbout, Rima, Muscal, Eyal, Kaliakatsos, Marios, Wickström, Ronny, Riviello, James J., Brunklaus, Andreas, Payne, Eric, Valentin, Antonio, Wells, Elizabeth, Carpenter, Jessica L., Lee, Kihyeong, Lai, Yi‐Chen, Eschbach, Krista, Press, Craig A., Gorman, Mark, Stredny, Coral M., Roche, William

المصدر: Epilepsia Open; Mar2021, Vol. 6 Issue 1, p62-72, 11p

مصطلحات موضوعية: EPILEPSY, STATUS epilepticus, KETOGENIC diet, YOUNG adults, OLDER patients

المؤلفون: Kuchenbuch, Mathieu, D'Onofrio, Gianluca, Chemaly, Nicole, Barcia, Giulia, Teng, Théo, Nabbout, Rima

المصدر: Epilepsia Open; Sep2020, Vol. 5 Issue 3, p496-500, 5p

مصطلحات موضوعية: SEIZURES (Medicine), CANNABIDIOL, SYNCOPE, AUTISM spectrum disorders, DEVELOPMENTAL delay, VAGUS nerve, MULTIDRUG-resistant tuberculosis, AUTOMATED external defibrillation

المؤلفون: Routier, Laura, Verny, Florine, Barcia, Giulia, Chemaly, Nicole, Desguerre, Isabelle, Colleaux, Laurence, Nabbout, Rima

المصدر: Clinical Genetics; Sep2019, Vol. 96 Issue 3, p254-260, 7p, 3 Charts

مصطلحات موضوعية: PEOPLE with epilepsy, BRAIN diseases, NEURAL development, INTELLECTUAL disabilities, EPILEPSY

المؤلفون: COPPOLA, Giangennaro, Besag, Frank, Cusmai, Raffaella, Dulac, Olivier, Kluger, Gerhard, Moavero, Romina, Nabbout, Rima, Nikanorova, Marina, Pisani, Francesco, Verrotti, Alberto, von Stülpnagel, Celina, Curatolo, Paolo

المساهمون: Coppola, Giangennaro, Besag, Frank, Cusmai, Raffaella, Dulac, Olivier, Kluger, Gerhard, Moavero, Romina, Nabbout, Rima, Nikanorova, Marina, Pisani, Francesco, Verrotti, Alberto, von Stülpnagel, Celina, Curatolo, Paolo

مصطلحات موضوعية: Antiepileptic drug interaction, Epileptic encephalopathy, Focal seizure, Lennox–Gastaut syndrome, Paediatric epilepsy, Rufinamide, Anticonvulsant, Epilepsy, Female, Human, Male, Triazole, Guidelines as Topic

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24929673; info:eu-repo/semantics/altIdentifier/wos/WOS:000344437800006; volume:18; firstpage:685; lastpage:690; numberofpages:6; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/11386/4671572Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908314691

الإتاحة: https://doi.org/10.1016/j.ejpn.2014.05.008Test
http://hdl.handle.net/11386/4671572Test

المؤلفون: Chipaux, Mathilde, Szurhaj, William, Vercueil, Laurent, Milh, Mathieu, Villeneuve, Nathalie, Cances, Claude, Auvin, Stéphane, Chassagnon, Serge, Napuri, Sylvia, Allaire, Catherine, Derambure, Philippe, Marchal, Cecile, Caubel, Isabelle, Ricard-Mousnier, Brigitte, Nguyen The Tich, Sylvie, Pinard, Jean-Marc, Bahi-Buisson, Nadia, De Barace, Claire, Kahane, Philippe, Gautier, Agnes, Hamelin, Sophie, Coste-Zeitoun, Delphine, Rosenberg, Sarah-Dominique, Clerson, Pierre, Nabbout, Rima, Kuchenbuch, Mathieu, Picot, Marie-Christine, Kaminska, Anna

المساهمون: CHU Lille, CNRS, Inserm, Université de Lille, Troubles cognitifs dégénératifs et vasculaires - U1171, Médicaments et Molécules pour agir sur les Systèmes Vivants (M2SV) - U1177, Environnement Périnatal et Santé - EA 4489, Troubles cognitifs dégénératifs et vasculaires - U 1171 TCDV, Médicaments et molécules pour agir sur les Systèmes Vivants - U 1177 M2SV, Environnement périnatal et croissance - EA 4489 EPS, Impact de l'environnement chimique sur la santé humaine - ULR 4483 IMPECS

مصطلحات موضوعية: Epilepsy database, Drug-resistant epilepsy, Epileptic encephalopathy, Epilepsy syndrome, Epilepsy etiology

العلاقة: Epilepsia; http://hdl.handle.net/20.500.12210/16553Test

الإتاحة: https://doi.org/20.500.12210/16553Test
https://hdl.handle.net/20.500.12210/16553Test

المؤلفون: Ouss, Lisa, Leunen, Dorothee, Laschet, Jacques, Chemaly, Nicole, Barcia, Giulia, Losito, Emma M., Aouidad, Aveline, Barrault, Zoe, Desguerre, Isabelle, Breuillard, Delphine, Nabbout, Rima

المصدر: Epilepsia Open; Mar2019, Vol. 4 Issue 1, p40-53, 14p

مصطلحات موضوعية: AUTISM spectrum disorders, AUTISTIC children, COGNITION disorders, FINE motor ability, INTELLECTUAL disabilities, ADAPTABILITY (Personality)