Multi-electrode Array Recordings of Human Epileptic Postoperative Cortical Tissue

por Dossi, Elena, Blauwblomme, Thomas, Nabbout, Rima, Huberfeld, Gilles, Rouach, Nathalie
Publicado 2014

Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data

por Nabbout, Rima, Matricardi, Sara, De Liso, Paola, Dulac, Olivier, Oualha, Mehdi
Publicado 2023

Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome

por Barco, Tommaso Lo, Kuchenbuch, Mathieu, Garcelon, Nicolas, Neuraz, Antoine, Nabbout, Rima
Publicado 2021

3D figure of epilepsy syndromes

por Nabbout, Rima, Kuchenbuch, Mathieu, Tinuper, Paolo, Cross, J. Helen, Wirrell, Elaine
Publicado 2022

Add‐on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy

por Kuchenbuch, Mathieu, D'Onofrio, Gianluca, Chemaly, Nicole, Barcia, Giulia, Teng, Théo, Nabbout, Rima
Publicado 2020

Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study

por Soussand, Louis, Kuchenbuch, Mathieu, Messiaen, Claude, Sandrin, Arnaud, Jannot, Anne-Sophie, Nabbout, Rima
Publicado 2022

Composite endpoints, including patient reported outcomes, in rare diseases

por Verbeeck, Johan, Dirani, Maya, Bauer, Johann W., Hilgers, Ralf-Dieter, Molenberghs, Geert, Nabbout, Rima
Publicado 2023

Long‐term cannabidiol treatment in patients with Dravet syndrome: An open‐label extension trial

por Devinsky, Orrin, Nabbout, Rima, Miller, Ian, Laux, Linda, Zolnowska, Marta, Wright, Stephen, Roberts, Claire
Publicado 2018

Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis?

por Benjumea-Cuartas, Vanessa, Eisermann, Monika, Simonnet, Hina, Hully, Marie, Nabbout, Rima, Desguerre, Isabelle, Kaminska, Anna
Publicado 2017

Together4RD position statement on collaboration between European reference networks and industry

por Hedley, Victoria, Bolz-Johnson, Matt, Hernando, Ines, Kenward, Rosalind, Nabbout, Rima, Romero, Clara, Schaefer, Franz, Upadhyaya, Sheela
Publicado 2023

Fatal Status Epilepticus in Dravet Syndrome

por De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Publicado 2020

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...

por De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Publicado 2021

International consensus on diagnosis and management of Dravet syndrome

por Wirrell, Elaine C., Hood, Veronica, Knupp, Kelly G., Meskis, Mary Anne, Nabbout, Rima, Scheffer, Ingrid E., Wilmshurst, Jo, Sullivan, Joseph
Publicado 2022

Regulation of ClC-2 gating by intracellular ATP

por Stölting, Gabriel, Teodorescu, Georgeta, Begemann, Birgit, Schubert, Julian, Nabbout, Rima, Toliat, Mohammad Reza, Sander, Thomas, Nürnberg, Peter, Lerche, Holger, Fahlke, Christoph
Publicado 2013

Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome

por Brambilla, Isabella, Aibar, José Ángel, Hallet, Anne Sophie, Bibic, Irena, Cardenal‐Muñoz, Elena, Prpic, Igor, Darra, Francesca, Specchio, Nicola, Nabbout, Rima
Publicado 2021

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

por Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima
Publicado 2021

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

por Nabbout, Rima, Chemaly, Nicole, Chipaux, Mathilde, Barcia, Giulia, Bouis, Charles, Dubouch, Celia, Leunen, Dorothee, Jambaqué, Isabelle, Dulac, Olivier, Dellatolas, Georges, Chiron, Catherine
Publicado 2013

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

por Zöllner, Johann Philipp, Franz, David Neal, Hertzberg, Christoph, Nabbout, Rima, Rosenow, Felix, Sauter, Matthias, Schubert-Bast, Susanne, Wiemer-Kruel, Adelheid, Strzelczyk, Adam
Publicado 2020

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

por Ouss, Lisa, Leunen, Dorothee, Laschet, Jacques, Chemaly, Nicole, Barcia, Giulia, Losito, Emma M., Aouidad, Aveline, Barrault, Zoe, Desguerre, Isabelle, Breuillard, Delphine, Nabbout, Rima
Publicado 2018

Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex – Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy

por de Vries, Petrus J., Franz, David N., Curatolo, Paolo, Nabbout, Rima, Neary, Maureen, Herbst, Fabian, Sully, Kate, Brohan, Elaine, Bennett, Bryan, Lawson, John A.
Publicado 2018