Výsledky vyhledávání - Nabbout, Rima

Mechanisms of Epileptogenesis in Pediatric Epileptic Syndromes: Rasmussen Encephalitis, Infantile Spasms, and Febrile Infection-related Epilepsy Syndrome (FIRES) Autor Pardo, Carlos A., Nabbout, Rima, Galanopoulou, Aristea S.

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Multi-electrode Array Recordings of Human Epileptic Postoperative Cortical Tissue Autor Dossi, Elena, Blauwblomme, Thomas, Nabbout, Rima, Huberfeld, Gilles, Rouach, Nathalie

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Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome Autor Barco, Tommaso Lo, Kuchenbuch, Mathieu, Garcelon, Nicolas, Neuraz, Antoine, Nabbout, Rima

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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 Autor Zhang, Yalan, Ali, Syed R., Nabbout, Rima, Barcia, Giulia, Kaczmarek, Leonard K.

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Add‐on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy Autor Kuchenbuch, Mathieu, D'Onofrio, Gianluca, Chemaly, Nicole, Barcia, Giulia, Teng, Théo, Nabbout, Rima

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Long‐term cannabidiol treatment in patients with Dravet syndrome: An open‐label extension trial Autor Devinsky, Orrin, Nabbout, Rima, Miller, Ian, Laux, Linda, Zolnowska, Marta, Wright, Stephen, Roberts, Claire

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Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis? Autor Benjumea-Cuartas, Vanessa, Eisermann, Monika, Simonnet, Hina, Hully, Marie, Nabbout, Rima, Desguerre, Isabelle, Kaminska, Anna

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KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response Autor Numis, Adam L., Angriman, Marco, Sullivan, Joseph E., Lewis, Ann J., Striano, Pasquale, Nabbout, Rima, Cilio, Maria R.

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A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31 Autor Cormier-Daire, Valérie, Dagoneau, Nathalie, Nabbout, Rima, Burglen, Lydie, Penet, Clotilde, Soufflet, Christine, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier

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Fatal Status Epilepticus in Dravet Syndrome Autor De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico

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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... Autor De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico

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Regulation of ClC-2 gating by intracellular ATP Autor Stölting, Gabriel, Teodorescu, Georgeta, Begemann, Birgit, Schubert, Julian, Nabbout, Rima, Toliat, Mohammad Reza, Sander, Thomas, Nürnberg, Peter, Lerche, Holger, Fahlke, Christoph

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Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome Autor Brambilla, Isabella, Aibar, José Ángel, Hallet, Anne Sophie, Bibic, Irena, Cardenal‐Muñoz, Elena, Prpic, Igor, Darra, Francesca, Specchio, Nicola, Nabbout, Rima

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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes Autor Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima

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Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy Autor Nabbout, Rima, Chemaly, Nicole, Chipaux, Mathilde, Barcia, Giulia, Bouis, Charles, Dubouch, Celia, Leunen, Dorothee, Jambaqué, Isabelle, Dulac, Olivier, Dellatolas, Georges, Chiron, Catherine

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A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC) Autor Zöllner, Johann Philipp, Franz, David Neal, Hertzberg, Christoph, Nabbout, Rima, Rosenow, Felix, Sauter, Matthias, Schubert-Bast, Susanne, Wiemer-Kruel, Adelheid, Strzelczyk, Adam

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Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype Autor Ouss, Lisa, Leunen, Dorothee, Laschet, Jacques, Chemaly, Nicole, Barcia, Giulia, Losito, Emma M., Aouidad, Aveline, Barrault, Zoe, Desguerre, Isabelle, Breuillard, Delphine, Nabbout, Rima

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Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome Autor Kurbatova, Polina, Wendling, Fabrice, Kaminska, Anna, Rosati, Anna, Nabbout, Rima, Guerrini, Renzo, Dulac, Olivier, Pons, Gérard, Cornu, Catherine, Nony, Patrice, Chiron, Catherine, Benquet, Pascal

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Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex – Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy Autor de Vries, Petrus J., Franz, David N., Curatolo, Paolo, Nabbout, Rima, Neary, Maureen, Herbst, Fabian, Sully, Kate, Brohan, Elaine, Bennett, Bryan, Lawson, John A.

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Human Slack potassium channel mutations increase positive cooperativity between individual channels Autor 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.

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