Works matching AU Nabbout, Rima

Results: 158
    1

    Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.

    Published in:
    JAMA Neurology, 2022, v. 79, n. 6, p. 554, doi. 10.1001/jamaneurol.2022.0829
    By:
    • Knupp, Kelly G.;
    • Scheffer, Ingrid E.;
    • Ceulemans, Berten;
    • Sullivan, Joseph E.;
    • Nickels, Katherine C.;
    • Lagae, Lieven;
    • Guerrini, Renzo;
    • Zuberi, Sameer M.;
    • Nabbout, Rima;
    • Riney, Kate;
    • Shore, Svetlana;
    • Agarwal, Anupam;
    • Lock, Michael;
    • Farfel, Gail M.;
    • Galer, Bradley S.;
    • Gammaitoni, Arnold R.;
    • Davis, Ronald;
    • Gil-Nagel, Antonio
    Publication type:
    Article
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    Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

    Published in:
    JAMA Neurology, 2020, v. 77, n. 3, p. 300, doi. 10.1001/jamaneurol.2019.4113
    By:
    • Nabbout, Rima;
    • Mistry, Arun;
    • Zuberi, Sameer;
    • Villeneuve, Nathalie;
    • Gil-Nagel, Antonio;
    • Sanchez-Carpintero, Rocio;
    • Stephani, Ulrich;
    • Laux, Linda;
    • Wirrell, Elaine;
    • Knupp, Kelly;
    • Chiron, Catherine;
    • Farfel, Gail;
    • Galer, Bradley S.;
    • Morrison, Glenn;
    • Lock, Michael;
    • Agarwal, Anupam;
    • Auvin, Stéphane
    Publication type:
    Article
    3

    Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42855-6
    By:
    • Huschner, Franz;
    • Głowacka-Walas, Jagoda;
    • Mills, James D.;
    • Klonowska, Katarzyna;
    • Lasseter, Kathryn;
    • Asara, John M.;
    • Moavero, Romina;
    • Hertzberg, Christoph;
    • Weschke, Bernhard;
    • Riney, Kate;
    • Feucht, Martha;
    • Scholl, Theresa;
    • Krsek, Pavel;
    • Nabbout, Rima;
    • Jansen, Anna C.;
    • Petrák, Bořivoj;
    • van Scheppingen, Jackelien;
    • Zamecnik, Josef;
    • Iyer, Anand;
    • Anink, Jasper J.
    Publication type:
    Article
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    TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

    Published in:
    2017
    By:
    • Kingswood, John C.;
    • d'Augères, Guillaume B.;
    • Belousova, Elena;
    • Ferreira, José C.;
    • Carter, Tom;
    • Castellana, Ramon;
    • Cottin, Vincent;
    • Curatolo, Paolo;
    • Dahlin, Maria;
    • de Vries, Petrus J.;
    • Feucht, Martha;
    • Fladrowski, Carla;
    • Gislimberti, Gabriella;
    • Hertzberg, Christoph;
    • Jozwiak, Sergiusz;
    • Lawson, John A.;
    • Macaya, Alfons;
    • Nabbout, Rima;
    • O'Callaghan, Finbar;
    • Benedik, Mirjana P.
    Publication type:
    journal article
    6

    Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.

    Published in:
    Annals of Neurology, 2021, v. 89, n. 2, p. 304, doi. 10.1002/ana.25956
    By:
    • Kotulska, Katarzyna;
    • Kwiatkowski, David J.;
    • Curatolo, Paolo;
    • Weschke, Bernhard;
    • Riney, Kate;
    • Jansen, Floor;
    • Feucht, Martha;
    • Krsek, Pavel;
    • Nabbout, Rima;
    • Jansen, Anna C.;
    • Wojdan, Konrad;
    • Sijko, Kamil;
    • Głowacka‐Walas, Jagoda;
    • Borkowska, Julita;
    • Sadowski, Krzysztof;
    • Domańska‐Pakieła, Dorota;
    • Moavero, Romina;
    • Hertzberg, Christoph;
    • Hulshof, Hanna;
    • Scholl, Theresa
    Publication type:
    Article
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    Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions.

    Published in:
    Epilepsia (Series 4), 2018, v. 59, n. 4, p. 739, doi. 10.1111/epi.14016
    By:
    • Hirsch, Lawrence J.;
    • Gaspard, Nicolas;
    • van 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
    Publication type:
    Article
    17

    ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.

    Published in:
    Epilepsia (Series 4), 2016, v. 57, n. 7, p. 1069, doi. 10.1111/epi.13420
    By:
    • Rheims, Sylvain;
    • Herbillon, Vania;
    • Villeneuve, Nathalie;
    • Auvin, Stéphane;
    • Napuri, Silvia;
    • Cances, Claude;
    • Berquin, Patrick;
    • Castelneau, Pierre;
    • Nguyen The Tich, Sylvie;
    • Villega, Frédéric;
    • Isnard, Hervé;
    • Nabbout, Rima;
    • Gaillard, Ségolène;
    • Mercier, Catherine;
    • Kassai, Behrouz;
    • Arzimanoglou, Alexis;
    • Pedespan, Jean‐Michel;
    • Bellescize, Julitta;
    • Keo‐Kosal, Pascale;
    • Panagiotakaki, Eleni
    Publication type:
    Article
    18

    Epilepsy in young Tsc1<sup> +/−</sup> mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.

    Published in:
    Epilepsia (Series 4), 2016, v. 57, n. 4, p. 648, doi. 10.1111/epi.13325
    By:
    • Gataullina, Svetlana;
    • Lemaire, Eric;
    • Wendling, Fabrice;
    • Kaminska, Anna;
    • Watrin, Françoise;
    • Riquet, Audrey;
    • Ville, Dorothée;
    • Moutard, Marie‐Laure;
    • Saint Martin, Anne;
    • Napuri, Silvia;
    • Pedespan, Jean‐Michel;
    • Eisermann, Monika;
    • Bahi‐Buisson, Nadia;
    • Nabbout, Rima;
    • Chiron, Catherine;
    • Dulac, Olivier;
    • Huberfeld, Gilles
    Publication type:
    Article
    19

    Mutations in KCNT1 cause a spectrum of focal epilepsies.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 9, p. e114, doi. 10.1111/epi.13071
    By:
    • Møller, Rikke S.;
    • Heron, Sarah E.;
    • Larsen, Line H. G.;
    • Lim, Chiao Xin;
    • Ricos, Michael G.;
    • Bayly, Marta A.;
    • 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.
    Publication type:
    Article
    20

    Transition: Driving and exercise.

    Published in:
    Epilepsia (Series 4), 2014, v. 55, p. 41, doi. 10.1111/epi.12717
    By:
    • Nashef, Lina;
    • Capovilla, Giuseppe;
    • Camfield, Carol;
    • Camfield, Peter;
    • Nabbout, Rima
    Publication type:
    Article
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    Children often present with infantile spasms after herpetic encephalitis.

    Published in:
    Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1571, doi. 10.1111/epi.12258
    By:
    • Aznar Laín, Gemma;
    • Dellatolas, Georges;
    • Eisermann, Monika;
    • Boddaert, Nathalie;
    • Chiron, Catherine;
    • Bulteau, Christine;
    • Monteiro, José P.;
    • An, Isabelle;
    • Pédespan, Jean‐Michel;
    • Cancès, Claude;
    • Peudenier, Sylvianne;
    • Barthez, Marie‐Anne;
    • Milh, Mathieu;
    • Dorfmuller, Georges;
    • Héron, Bénédicte;
    • Nabbout, Rima;
    • Grevent, David;
    • Dulac, Olivier
    Publication type:
    Article
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    The genetics of Dravet syndrome.

    Published in:
    Epilepsia (Series 4), 2011, v. 52, p. 24, doi. 10.1111/j.1528-1167.2011.02997.x
    By:
    • Marini, Carla;
    • Scheffer, Ingrid E.;
    • Nabbout, Rima;
    • Suls, Arvid;
    • De Jonghe, Peter;
    • Zara, Federico;
    • Guerrini, Renzo
    Publication type:
    Article
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    SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis.

    Published in:
    Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1670, doi. 10.1111/j.1528-1167.2009.02013.x
    By:
    • Marini, Carla;
    • Scheffer, Ingrid E.;
    • Nabbout, Rima;
    • Mei, Davide;
    • Cox, Kathy;
    • Dibbens, Leanne M.;
    • McMahon, Jacinta M.;
    • Iona, Xenia;
    • Carpintero, Rochio Sanchez;
    • Elia, Maurizio;
    • Cilio, Maria Roberta;
    • Specchio, Nicola;
    • Giordano, Lucio;
    • Striano, Pasquale;
    • Gennaro, Elena;
    • Cross, J. Helen;
    • Kivity, Sara;
    • Neufeld, Miriam Y.;
    • Afawi, Zaid;
    • Andermann, Eva
    Publication type:
    Article
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    The three stages of epilepsy in patients with CDKL5 mutations.

    Published in:
    Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
    By:
    • Bahi-Buisson, Nadia;
    • Kaminska, Anna;
    • Boddaert, Nathalie;
    • Rio, Marlène;
    • Afenjar, Alexandra;
    • Gérard, Marion;
    • Giuliano, Fabienne;
    • Motte, Jacques;
    • Héron, Delphine;
    • Morel, Marie Ange N'Guyen;
    • Plouin, Perrine;
    • Richelme, Christian;
    • des Portes, Vincent;
    • Dulac, Olivier;
    • Philippe, Christophe;
    • Chiron, Catherine;
    • Nabbout, Rima;
    • Bienvenu, Thierry
    Publication type:
    Article
    33

    Spectrum of epilepsy in terminal 1p36 deletion syndrome.

    Published in:
    Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
    By:
    • Bahi-Buisson, Nadia;
    • Guttierrez-Delicado, Eva;
    • Soufflet, Christine;
    • Rio, Marlène;
    • Cormier Daire, Valérie;
    • Lacombe, Didier;
    • Héron, Delphine;
    • Verloes, Alain;
    • Zuberi, Sameer;
    • Burglen, Lydie;
    • Afenjar, Alexandra;
    • Moutard, Marie Laure;
    • Edery, Patrick;
    • Novelli, Antonio;
    • Bernardini, Laura;
    • Dulac, Olivier;
    • Nabbout, Rima;
    • Plouin, Perrine;
    • Battaglia, Agatino
    Publication type:
    Article
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    Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies.

    Published in:
    Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1682, doi. 10.1111/j.1528-1167.2006.00677.x
    By:
    • Hempelmann, Anne;
    • Taylor, Kirsten P.;
    • Heils, Armin;
    • Lorenz, Susanne;
    • Prud'Homme, Jean-Francois;
    • Nabbout, Rima;
    • Dulac, Olivier;
    • Rudolf, Gabrielle;
    • Zara, Federico;
    • Bianchi, Amedeo;
    • Robinson, Robert;
    • Gardiner, R. Mark;
    • Covanis, Athanasios;
    • Lindhout, Dick;
    • Stephani, Ulrich;
    • Elger, Christian E.;
    • Weber, Yvonne G.;
    • Lerche, Holger;
    • Nürnberg, Peter;
    • Kron, Katherine L.
    Publication type:
    Article
    36

    Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families.

    Published in:
    Epilepsia (Series 4), 2006, v. 47, n. 6, p. 1029, doi. 10.1111/j.1528-1167.2006.00521.x
    By:
    • Striano, Pasquale;
    • Lispi, Maria Luisa;
    • Gennaro, Elena;
    • Madia, Francesca;
    • Traverso, Monica;
    • Bordo, Laura;
    • Aridon, Paolo;
    • Boneschi, Filippo Martinelli;
    • Barone, Baldassare;
    • Bernardina, Bernardo dalla;
    • Bianchi, Amedeo;
    • Capovilla, Giuseppe;
    • De Marco, Pasquale;
    • Dulac, Olivier;
    • Gaggero, Roberto;
    • Gambardella, Antonio;
    • Nabbout, Rima;
    • Prud'homme, Jean-François;
    • Day, Ruth;
    • Vanadia, Francesca
    Publication type:
    Article
    37

    Epilepsy in Menkes Disease: Analysis of Clinical Stages.

    Published in:
    Epilepsia (Series 4), 2006, v. 47, n. 2, p. 380, doi. 10.1111/j.1528-1167.2006.00432.x
    By:
    • Bahi-Buisson, Nadia;
    • Kaminska, Anna;
    • Nabbout, Rima;
    • Barnerias, Christine;
    • Desguerre, Isabelle;
    • De Lonlay, Pascale;
    • Mayer, Michele;
    • Plouin, Perrine;
    • Dulac, Olivier;
    • Chiron, Catherine
    Publication type:
    Article
    38

    Short-term Nonhormonal and Nonsteroid Treatment in West Syndrome.

    Published in:
    2004
    By:
    • Capovilla, Giuseppe;
    • Beccaria, Francesca;
    • Montagnini, Alessandra;
    • Cusmai, Raffaella;
    • Franzoni, Emilio;
    • Moscano, Filomena;
    • Coppola, Giangennaro;
    • Carotenuto, Marco;
    • Gobbi, Giuseppe;
    • Seri, Stefano;
    • Nabbout, Rima;
    • Vigevano, Federico
    Publication type:
    Correction Notice
    39

    Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

    Published in:
    Nephrology Dialysis Transplantation, 2019, v. 34, n. 3, p. 502, doi. 10.1093/ndt/gfy063
    By:
    • Kingswood, J Chris;
    • Belousova, Elena;
    • Benedik, Mirjana P;
    • Carter, Tom;
    • Cottin, Vincent;
    • Curatolo, Paolo;
    • Dahlin, Maria;
    • Amato, Lisa D';
    • d'Augères, Guillaume Beaure;
    • Vries, Petrus J de;
    • Ferreira, José C;
    • Feucht, Martha;
    • Fladrowski, Carla;
    • Hertzberg, Christoph;
    • Jozwiak, Sergiusz;
    • Lawson, John A;
    • Macaya, Alfons;
    • Marques, Ruben;
    • Nabbout, Rima;
    • O'Callaghan, Finbar
    Publication type:
    Article
    40

    miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.

    Published in:
    Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081838
    By:
    • Scheper, Mirte;
    • Romagnolo, Alessia;
    • Besharat, Zein Mersini;
    • Iyer, Anand M.;
    • Moavero, Romina;
    • Hertzberg, Christoph;
    • Weschke, Bernhard;
    • Riney, Kate;
    • Feucht, Martha;
    • Scholl, Theresa;
    • Petrak, Borivoj;
    • Maulisova, Alice;
    • Nabbout, Rima;
    • Jansen, Anna C.;
    • Jansen, Floor E.;
    • Lagae, Lieven;
    • Urbanska, Malgorzata;
    • Ferretti, Elisabetta;
    • Tempes, Aleksandra;
    • Blazejczyk, Magdalena
    Publication type:
    Article
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    Together4RD position statement on collaboration between European reference networks and industry.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02853-9
    By:
    • Hedley, Victoria;
    • Bolz-Johnson, Matt;
    • Hernando, Ines;
    • Kenward, Rosalind;
    • Nabbout, Rima;
    • Romero, Clara;
    • Schaefer, Franz;
    • Upadhyaya, Sheela;
    • Arzimanoglou, Alexis;
    • Dollfus, Hélène;
    • Leroux, Dorothée;
    • Scarpa, Maurizio;
    • Verloes, Alain;
    • Daria Julkowska;
    • Rath, Ana;
    • Ussi, Anton;
    • Mimouni, Yanis;
    • Cuisenier, Morgane;
    • Chalandon, Anne-Sophie;
    • Digneffe, Toon
    Publication type:
    Article
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    Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity.

    Published in:
    Annals of Neurology, 2009, v. 65, n. 1, p. 98, doi. 10.1002/ana.21526
    By:
    • Jammoul, Firas;
    • Wang, Qingping;
    • Nabbout, Rima;
    • Coriat, Caroline;
    • Duboc, Agnès;
    • Simonutti, Manuel;
    • Dubus, Elisabeth;
    • Craft, Cheryl M.;
    • Ye, Wen;
    • Collins, Stephen D.;
    • Dulac, Olivier;
    • Chiron, Catherine;
    • Sahel, José A.;
    • Picaud, Serge
    Publication type:
    Article
    46

    Vigabatrin‐associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 2, p. 356, doi. 10.1111/epi.18190
    By:
    • Stevering, Carmen;
    • Lequin, Maarten;
    • Szczepaniak, Kinga;
    • Sadowski, Krzysztof;
    • Ishrat, Saba;
    • De Luca, Alberto;
    • Leemans, Alexander;
    • Otte, Willem;
    • Kwiatkowski, David J.;
    • Curatolo, Paolo;
    • Weschke, Bernhard;
    • Riney, Kate;
    • Feucht, Martha;
    • Krsek, Pavel;
    • Nabbout, Rima;
    • Jansen, Anna;
    • Wojdan, Konrad;
    • Sijko, Kamil;
    • Glowacka‐Walas, Jagoda;
    • Borkowska, Julita
    Publication type:
    Article
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    Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
    By:
    • Gallagher, Declan;
    • Pérez‐Palma, Eduardo;
    • Bruenger, Tobias;
    • Ghanty, Ismael;
    • Brilstra, Eva;
    • Ceulemans, Berten;
    • Chemaly, Nicole;
    • de Lange, Iris;
    • Depienne, Christel;
    • Guerrini, Renzo;
    • Mei, Davide;
    • Møller, Rikke S.;
    • Nabbout, Rima;
    • Regan, Brigid M.;
    • Schneider, Amy L.;
    • Scheffer, Ingrid E.;
    • Schoonjans, An‐Sofie;
    • Symonds, Joseph D.;
    • Weckhuysen, Sarah;
    • Zuberi, Sameer M.
    Publication type:
    Article