Search Results - "Nabbout, Rima"

FIRES and IHHE: Delineation of the syndromes by Nabbout, Rima

“…Summary Idiopathic hemiconvulsion hemiplegia and epilepsy syndrome (IHHE) and febrile infection–related epilepsy syndrome (FIRES) are rare epileptic syndromes…”
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SCN1A‐related phenotypes: Epilepsy and beyond by Scheffer, Ingrid E., Nabbout, Rima

“…SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the…”
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Impact of predictive, preventive and precision medicine strategies in epilepsy by Nabbout, Rima, Kuchenbuch, Mathieu

“…Over the last decade, advances in genetics, neuroimaging and EEG have enabled the aetiology of epilepsy to be identified earlier in the disease course than…”
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Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome by Devinsky, Orrin, Cross, J. Helen, Laux, Linda, Marsh, Eric, Miller, Ian, Nabbout, Rima, Scheffer, Ingrid E, Thiele, Elizabeth A, Wright, Stephen

“…Among children and young adults with the Dravet syndrome, a developmental disorder that is associated with treatment-resistant seizures, cannabidiol reduced…”
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New‐onset refractory status epilepticus (NORSE) and febrile infection–related epilepsy syndrome (FIRES): State of the art and perspectives by Gaspard, Nicolas, Hirsch, Lawrence J., Sculier, Claudine, Loddenkemper, Tobias, Baalen, Andreas, Lancrenon, Judette, Emmery, Michel, Specchio, Nicola, Farias‐Moeller, Raquel, Wong, Nora, Nabbout, Rima

“…Summary We report the proceedings of the First International new‐onset refractory status epilepticus (NORSE) and febrile infection‐related epilepsy syndrome…”
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International consensus on diagnosis and management of Dravet syndrome by Wirrell, Elaine C., Hood, Veronica, Knupp, Kelly G., Meskis, Mary Anne, Nabbout, Rima, Scheffer, Ingrid E., Wilmshurst, Jo, Sullivan, Joseph

“…Objective This study was undertaken to gain consensus from experienced physicians and caregivers regarding optimal diagnosis and management of Dravet syndrome…”
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Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study by French, Jacqueline A, Dr Prof, Lawson, John A, MD, Yapici, Zuhal, Prof, Ikeda, Hiroko, MD, Polster, Tilman, MD, Nabbout, Rima, PhD, Curatolo, Paolo, Prof, de Vries, Petrus J, Prof, Dlugos, Dennis J, MD, Berkowitz, Noah, PhD, Voi, Maurizio, MD, Peyrard, Severine, MS, Pelov, Diana, MS, Franz, David N, Prof

“…Summary Background Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used for various benign tumours associated with tuberous sclerosis…”
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Dravet syndrome: Treatment options and management of prolonged seizures by Cross, J. Helen, Caraballo, Roberto H., Nabbout, Rima, Vigevano, Federico, Guerrini, Renzo, Lagae, Lieven

“…Over time, with careful delineation of Dravet syndrome, we have gained experience in treatments most likely to lead to improvement in seizures, as well as…”
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Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions by Hirsch, Lawrence J., Gaspard, Nicolas, Baalen, Andreas, Nabbout, Rima, Demeret, Sophie, Loddenkemper, Tobias, Navarro, Vincent, Specchio, Nicola, Lagae, Lieven, Rossetti, Andrea O., Hocker, Sara, Gofton, Teneille E., Abend, Nicholas S., Gilmore, Emily J., Hahn, Cecil, Khosravani, Houman, Rosenow, Felix, Trinka, Eugen

“…Summary We convened an international group of experts to standardize definitions of New‐Onset Refractory Status Epilepticus (NORSE), Febrile Infection‐Related…”
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Innovative methodologies for rare diseases clinical trials by Nabbout, Rima, Hilgers, Ralf-Dieter

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Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial by Sullivan, Joseph, Lagae, Lieven, Cross, J Helen, Devinsky, Orrin, Guerrini, Renzo, Knupp, Kelly G, Laux, Linda, Nikanorova, Marina, Polster, Tilman, Talwar, Dinesh, Ceulemans, Berten, Nabbout, Rima, Farfel, Gail M, Galer, Bradley S, Gammaitoni, Arnold R, Lock, Michael, Agarwal, Anupam, Scheffer, Ingrid E

“…To assess the safety and efficacy of fenfluramine in the treatment of convulsive seizures in patients with Dravet syndrome. This multicenter, randomized,…”
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International consensus recommendations for management of new onset refractory status epilepticus including febrile infection‐related epilepsy syndrome: Statements and supporting evidence by Wickstrom, Ronny, Taraschenko, Olga, Dilena, Robertino, Payne, Eric T., Specchio, Nicola, Nabbout, Rima, Koh, Sookyong, Gaspard, Nicolas, Hirsch, Lawrence J., Auvin, Stephane, Baalen, Andreas, Beghi, Ettore, Benseler, Susanne M., Bergin, Peter, Bleck, Tom, Brunklaus, Andreas, Caraballo, Roberto H., Cervenka, Mackenzie, Costello, Daniel, Drislane, Frank, Farias‐Moeller, Raquel, Gallantine, William, Gilmore, Emily, Gofton, Teneille, Jimenez, Maria Angeles Perez, Hocker, Sara, Kaliakatsos, Marios, Kellogg, Marissa, Lee, Jong Woo, Loddenkemper, Tobias, Meletti, Stefano, Mizugushi, Masashi, Muscal, Eyal, Riviello, James J., Rosenthal, Eric S., Rossetti, Andrea O., Ruegg, Stefan, Said, Rana, Sculier, Claudine, Schmitt, Sarah, Schuele, Stephan, Stredny, Coral, Trinka, Eugen, Wainwright, Mark, VanHaerents, Stephen, Wells, Elisabeth, Wirrell, Elaine, Zuberi, Sameer M.

“…Objective This study was undertaken to develop consensus‐based recommendations for the management of adult and pediatric patients with new onset refractory…”
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Acute encephalopathy with inflammation-mediated status epilepticus by Nabbout, Rima, Dr, Vezzani, Annamaria, PhD, Dulac, Olivier, Prof, Chiron, Catherine, MD

“…Summary Fever-induced refractory epileptic encephalopathy in school-aged children (FIRES), and idiopathic hemiconvulsion–hemiplegia syndrome (IHHS) are both…”
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Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES) by Nabbout, Rima, Mazzuca, Michel, Hubert, Philippe, Peudennier, Sylviane, Allaire, Catherine, Flurin, Vincent, Aberastury, Marina, Silva, Walter, Dulac, Olivier

“…Summary Purpose:  Fever induced refractory epileptic encephalopathy in school age children (FIRES) is a devastating condition initiated by prolonged…”
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The genetics of Dravet syndrome by Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Suls, Arvid, De Jonghe, Peter, Zara, Federico, Guerrini, Renzo

“…Summary Dravet syndrome (DS), otherwise known as severe myoclonic epilepsy of infancy (SMEI), is an epileptic encephalopathy presenting in the first year of…”
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A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC) by Zöllner, Johann Philipp, Franz, David Neal, Hertzberg, Christoph, Nabbout, Rima, Rosenow, Felix, Sauter, Matthias, Schubert-Bast, Susanne, Wiemer-Kruel, Adelheid, Strzelczyk, Adam

“…This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting…”
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy by Barcia, Giulia, Fleming, Matthew R, Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R, Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta, Nitschke, Patrick, Kaminska, Anna, Boddaert, Nathalie, Casanova, Jean-Laurent, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier, Kaczmarek, Leonard K, Colleaux, Laurence, Nabbout, Rima

“…Rima Nabbout and colleagues report the identification of de novo mutations in the KCNT1 potassium channel gene in individuals with malignant migrating partial…”
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Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome by Barco, Tommaso Lo, Kuchenbuch, Mathieu, Garcelon, Nicolas, Neuraz, Antoine, Nabbout, Rima

“…Abstract Background The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data…”
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Efficacy of anti‐seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1‐related epilepsy: A systematic review by Gras, Mathilde, Bearden, David, West, Justin, Nabbout, Rima

“…Objective KCNT1‐related epilepsies encompass three main phenotypes: (i) epilepsy of infancy with migrating focal seizures (EIMFS), (ii) autosomal dominant or…”
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Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study by Soussand, Louis, Kuchenbuch, Mathieu, Messiaen, Claude, Sandrin, Arnaud, Jannot, Anne-Sophie, Nabbout, Rima

“…Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic diseases. However, few…”
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