نتائج البحث - Nabbout, Rima
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Mechanisms of Epileptogenesis in Pediatric Epileptic Syndromes: Rasmussen Encephalitis, Infantile Spasms, and Febrile Infection-related Epilepsy Syndrome (FIRES) حسب Pardo, Carlos A., Nabbout, Rima, Galanopoulou, Aristea S.
منشور في 2014نص -
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Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome حسب Barco, Tommaso Lo, Kuchenbuch, Mathieu, Garcelon, Nicolas, Neuraz, Antoine, Nabbout, Rima
منشور في 2021نص -
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A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation حسب Zhang, Yalan, Ali, Syed R., Nabbout, Rima, Barcia, Giulia, Kaczmarek, Leonard K.
منشور في 2021نص -
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Add‐on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy حسب Kuchenbuch, Mathieu, D'Onofrio, Gianluca, Chemaly, Nicole, Barcia, Giulia, Teng, Théo, Nabbout, Rima
منشور في 2020نص -
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Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis? حسب Benjumea-Cuartas, Vanessa, Eisermann, Monika, Simonnet, Hina, Hully, Marie, Nabbout, Rima, Desguerre, Isabelle, Kaminska, Anna
منشور في 2017نص -
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Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status... حسب De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
منشور في 2021نص -
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Regulation of ClC-2 gating by intracellular ATP حسب Stölting, Gabriel, Teodorescu, Georgeta, Begemann, Birgit, Schubert, Julian, Nabbout, Rima, Toliat, Mohammad Reza, Sander, Thomas, Nürnberg, Peter, Lerche, Holger, Fahlke, Christoph
منشور في 2013نص -
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Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome حسب Brambilla, Isabella, Aibar, José Ángel, Hallet, Anne Sophie, Bibic, Irena, Cardenal‐Muñoz, Elena, Prpic, Igor, Darra, Francesca, Specchio, Nicola, Nabbout, Rima
منشور في 2021نص -
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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes حسب Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima
منشور في 2021نص -
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Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy حسب Nabbout, Rima, Chemaly, Nicole, Chipaux, Mathilde, Barcia, Giulia, Bouis, Charles, Dubouch, Celia, Leunen, Dorothee, Jambaqué, Isabelle, Dulac, Olivier, Dellatolas, Georges, Chiron, Catherine
منشور في 2013نص -
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A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC) حسب Zöllner, Johann Philipp, Franz, David Neal, Hertzberg, Christoph, Nabbout, Rima, Rosenow, Felix, Sauter, Matthias, Schubert-Bast, Susanne, Wiemer-Kruel, Adelheid, Strzelczyk, Adam
منشور في 2020نص -
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Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype حسب Ouss, Lisa, Leunen, Dorothee, Laschet, Jacques, Chemaly, Nicole, Barcia, Giulia, Losito, Emma M., Aouidad, Aveline, Barrault, Zoe, Desguerre, Isabelle, Breuillard, Delphine, Nabbout, Rima
منشور في 2018نص -
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Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome حسب Kurbatova, Polina, Wendling, Fabrice, Kaminska, Anna, Rosati, Anna, Nabbout, Rima, Guerrini, Renzo, Dulac, Olivier, Pons, Gérard, Cornu, Catherine, Nony, Patrice, Chiron, Catherine, Benquet, Pascal
منشور في 2016نص -
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Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex – Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy حسب de Vries, Petrus J., Franz, David N., Curatolo, Paolo, Nabbout, Rima, Neary, Maureen, Herbst, Fabian, Sully, Kate, Brohan, Elaine, Bennett, Bryan, Lawson, John A.
منشور في 2018نص -
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Human Slack potassium channel mutations increase positive cooperativity between individual channels حسب Kim, Grace E., Kronengold, Jack, Barcia, Giulia, Quraishi, Imran H., Martin, Hilary C., Blair, Edward, Taylor, Jenny C., Dulac, Olivier, Colleaux, Laurence, Nabbout, Rima, Kaczmarek, Leonard K.
منشور في 2014نص