Works by Nabbout, Rima

Results: 162
    1

    Epileptic spasms in congenital disorders of glycosylation.

    Published in:
    Epileptic Disorders, 2017, v. 19, n. 1, p. 15, doi. 10.1684/epd.2017.0901
    By:
    • Pereira, Andreia G.;
    • Bahi-Buisson, Nadia;
    • Barnerias, Christine;
    • Boddaert, Nathalie;
    • Nabbout, Rima;
    • de Lonlay, Pascale;
    • Kaminska, Anna;
    • Eisermann, Monika
    Publication type:
    Article
    2

    Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2046, doi. 10.1111/epi.18346
    By:
    • Rong, Marlene;
    • Marques, Paula T.;
    • Ali, Quratulain Zulfiqar;
    • Morcos, Ricardo;
    • Chandran, Ilakkiah;
    • Qaiser, Farah;
    • Møller, Rikke S.;
    • Bayat, Allan;
    • Rubboli, Guido;
    • Gardella, Elena;
    • Reuter, Miriam S.;
    • Sands, Tristan T.;
    • Scheffer, Ingrid E.;
    • Schneider, Amy;
    • Poduri, Annapurna;
    • Wirrell, Elaine;
    • Nabbout, Rima;
    • Sullivan, Joseph;
    • Valente, Kette;
    • Auvin, Stéphane
    Publication type:
    Article
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    Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

    Published in:
    Human Mutation, 2016, v. 37, n. 4, p. 364, doi. 10.1002/humu.22951
    By:
    • Ekong, Rosemary;
    • Nellist, Mark;
    • Hoogeveen‐Westerveld, Marianne;
    • Wentink, Marjolein;
    • Panzer, Jessica;
    • Sparagana, Steven;
    • Emmett, Warren;
    • Dawson, Natalie L.;
    • Malinge, Marie Claire;
    • Nabbout, Rima;
    • Carbonara, Caterina;
    • Barberis, Marco;
    • Padovan, Sergio;
    • Futema, Marta;
    • Plagnol, Vincent;
    • Humphries, Steve E.;
    • Migone, Nicola;
    • Povey, Sue
    Publication type:
    Article
    6
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    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

    Published in:
    Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373
    By:
    • Depienne, Christel;
    • Trouillard, Oriane;
    • Bouteiller, Delphine;
    • Gourfinkel-An, Isabelle;
    • Poirier, Karine;
    • Rivier, François;
    • Berquin, Patrick;
    • Nabbout, Rima;
    • Chaigne, Denys;
    • Steschenko, Dominique;
    • Gautier, Agnès;
    • Hoffman-Zacharska, Dorota;
    • Lannuzel, Annie;
    • Lackmy-Port-Lis, Marilyn;
    • Maurey, Hélène;
    • Dusser, Anne;
    • Bru, Marie;
    • Gilbert-Dussardier, Brigitte;
    • Roubertie, Agathe;
    • Kaminska, Anna
    Publication type:
    Article
    8

    Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876
    By:
    • Saint-Martin, Cécile;
    • Gauvain, Grégory;
    • Teodorescu, Georgeta;
    • Gourfinkel-An, Isabelle;
    • Fedirko, Estelle;
    • Weber, Yvonne G.;
    • Maljevic, Snezana;
    • Ernst, Jan-Peter;
    • Garcia-Olivares, Jennie;
    • Fahlke, Christoph;
    • Nabbout, Rima;
    • LeGuern, Eric;
    • Lerche, Holger;
    • Poncer, Jean Christophe;
    • Depienne, Christel
    Publication type:
    Article
    9
    10

    Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 788, doi. 10.3390/jcm8060788
    By:
    • Moavero, Romina;
    • Benvenuto, Arianna;
    • Emberti Gialloreti, Leonardo;
    • Siracusano, Martina;
    • Kotulska, Katarzyna;
    • Weschke, Bernhard;
    • Riney, Kate;
    • Jansen, Floor E.;
    • Feucht, Martha;
    • Krsek, Pavel;
    • Nabbout, Rima;
    • Jansen, Anna C.;
    • Wojdan, Konrad;
    • Borkowska, Julita;
    • Sadowski, Krzystof;
    • Hertzberg, Christoph;
    • Hulshof, Hanna;
    • Samueli, Sharon;
    • Benova, Barbora;
    • Aronica, Eleonora
    Publication type:
    Article
    11

    Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1371, doi. 10.1002/acn3.51128
    By:
    • Moavero, Romina;
    • Kotulska, Katarzyna;
    • Lagae, Lieven;
    • Benvenuto, Arianna;
    • Emberti Gialloreti, Leonardo;
    • Weschke, Bernhard;
    • Riney, Kate;
    • Feucht, Martha;
    • Krsek, Pavel;
    • Nabbout, Rima;
    • Jansen, Anna C.;
    • Wojdan, Konrad;
    • Borkowska, Julita;
    • Sadowski, Krzysztof;
    • Hertzberg, Christoph;
    • Van Schooneveld, Monique M.;
    • Samueli, Sharon;
    • Maulisovà, Alice;
    • Aronica, Eleonora;
    • Kwiatkowski, David J.
    Publication type:
    Article
    12

    Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1429, doi. 10.1002/acn3.51062
    By:
    • Helbig, Ingo;
    • Barcia, Giulia;
    • Pendziwiat, Manuela;
    • Ganesan, Shiva;
    • Mueller, Stefanie H.;
    • Helbig, Katherine L.;
    • Vaidiswaran, Priya;
    • Xian, Julie;
    • Galer, Peter D.;
    • Afawi, Zaid;
    • Specchio, Nicola;
    • Kluger, Gerhard;
    • Kuhlenbäumer, Gregor;
    • Appenzeller, Silke;
    • Wittig, Michael;
    • Kramer, Uri;
    • Baalen, Andreas;
    • Nabbout, Rima
    Publication type:
    Article
    13

    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
    14

    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
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    Linkage and association analysis of CACNG3 in childhood absence epilepsy.

    Published in:
    2008
    By:
    • Everett, Kate;
    • Chioza, Barry;
    • Aicardi, Jean;
    • Aschauer, Harald;
    • Brouwer, Oebele;
    • Callenbach, Petra;
    • Covanis, Athanasios;
    • Dulac, Olivier;
    • Eeg-Olofsson, Orvar;
    • Feucht, Martha;
    • Friis, Mogens;
    • Goutieres, Françoise;
    • Guerrini, Renzo;
    • Heils, Armin;
    • Kjeldsen, Marianne;
    • Lehesjoki, Anna-Elina;
    • Makoff, Andrew;
    • Nabbout, Rima;
    • Olsson, Ingrid;
    • Sander, Thomas
    Publication type:
    Erratum
    18

    Linkage and association analysis of CACNG3 in childhood absence epilepsy.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201783
    By:
    • Everett, Kate V.;
    • Chioza, Barry;
    • Aicardi, Jean;
    • Aschauer, Harald;
    • Brouwer, Oebele;
    • Callenbach, Petra;
    • Covanis, Athanasios;
    • Dulac, Olivier;
    • Eeg-Olofsson, Orvar;
    • Feucht, Martha;
    • Friis, Mogens;
    • Goutieres, Françoise;
    • Guerrini, Renzo;
    • Heils, Armin;
    • Kjeldsen, Marianne;
    • Lehesjoki, Anna-Elina;
    • Makoff, Andrew;
    • Nabbout, Rima;
    • Olsson, Ingrid;
    • Sander, Thomas
    Publication type:
    Article
    19

    Predictive Performance of Population Pharmacokinetic Models of Levetiracetam in Children and Evaluation of Dosing Regimen.

    Published in:
    Journal of Clinical Pharmacology, 2021, v. 61, n. 10, p. 1366, doi. 10.1002/jcph.1910
    By:
    • Tauzin, Manon;
    • Tréluyer, Jean‐Marc;
    • Nabbout, Rima;
    • Chemaly, Nicole;
    • Billette de Villemeur, Thierry;
    • Desguerre, Isabelle;
    • Lui, Gabrielle;
    • Gana, Ines;
    • Boujaafar, Sana;
    • Zheng, Yi;
    • Benaboud, Sihem;
    • Bouazza, Naim;
    • Chenevier‐Gobeaux, Camille;
    • Freihuber, Cécile;
    • Hirt, Déborah
    Publication type:
    Article
    20
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    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

    Published in:
    2018
    By:
    • de Vries, Petrus J.;
    • Belousova, Elena;
    • Benedik, Mirjana P.;
    • Carter, Tom;
    • Cottin, Vincent;
    • Curatolo, Paolo;
    • Dahlin, Maria;
    • D’Amato, Lisa;
    • d’Augères, Guillaume B.;
    • Ferreira, José C.;
    • Feucht, Martha;
    • Fladrowski, Carla;
    • Hertzberg, Christoph;
    • Jozwiak, Sergiusz;
    • Kingswood, J. Chris;
    • Lawson, John A.;
    • Macaya, Alfons;
    • Marques, Ruben;
    • Nabbout, Rima;
    • O’Callaghan, Finbar
    Publication type:
    journal article
    24

    De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 6, p. 640, doi. 10.1038/ng.2952
    By:
    • Nava, Caroline;
    • Dalle, Carine;
    • Rastetter, Agnès;
    • Striano, Pasquale;
    • de Kovel, Carolien G F;
    • Nabbout, Rima;
    • Cancès, Claude;
    • Ville, Dorothée;
    • Brilstra, Eva H;
    • Gobbi, Giuseppe;
    • Raffo, Emmanuel;
    • Bouteiller, Delphine;
    • Marie, Yannick;
    • Trouillard, Oriane;
    • Robbiano, Angela;
    • Keren, Boris;
    • Agher, Dahbia;
    • Roze, Emmanuel;
    • Lesage, Suzanne;
    • Nicolas, Aude
    Publication type:
    Article
    25

    De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
    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
    Publication type:
    Article
    26

    Regulation of ClC-2 gating by intracellular ATP.

    Published in:
    Pflügers Archiv: European Journal of Physiology, 2013, v. 465, n. 10, p. 1423, doi. 10.1007/s00424-013-1286-0
    By:
    • Stölting, Gabriel;
    • Teodorescu, Georgeta;
    • Begemann, Birgit;
    • Schubert, Julian;
    • Nabbout, Rima;
    • Toliat, Mohammad;
    • Sander, Thomas;
    • Nürnberg, Peter;
    • Lerche, Holger;
    • Fahlke, Christoph
    Publication type:
    Article
    27

    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 Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10 , 889".

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 811, doi. 10.3390/brainsci11060811
    By:
    • De Liso, Paola;
    • Pironi, Virginia;
    • Mastrangelo, Massimo;
    • Battaglia, Domenica;
    • Craiu, Dana;
    • Trivisano, Marina;
    • Specchio, Nicola;
    • Nabbout, Rima;
    • Vigevano, Federico
    Publication type:
    Article
    28

    Fatal Status Epilepticus in Dravet Syndrome.

    Published in:
    Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 889, doi. 10.3390/brainsci10110889
    By:
    • De Liso, Paola;
    • Pironi, Virginia;
    • Mastrangelo, Massimo;
    • Battaglia, Domenica;
    • Craiu, Dana;
    • Trivisano, Marina;
    • Specchio, Nicola;
    • Nabbout, Rima;
    • Vigevano, Federico
    Publication type:
    Article
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    Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.

    Published in:
    Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01144
    By:
    • Marques, Ruben;
    • Belousova, Elena;
    • Benedik, Mirjana P.;
    • Carter, Tom;
    • Cottin, Vincent;
    • Curatolo, Paolo;
    • Dahlin, Maria;
    • D'Amato, Lisa;
    • Beaure d'Augères, Guillaume;
    • de Vries, Petrus J.;
    • Ferreira, José C.;
    • Feucht, Martha;
    • Fladrowski, Carla;
    • Hertzberg, Christoph;
    • Jozwiak, Sergiusz;
    • Lawson, John A.;
    • Macaya, Alfons;
    • Nabbout, Rima;
    • O'Callaghan, Finbar;
    • Qin, Jiong
    Publication type:
    Article
    34

    Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

    Published in:
    Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00821
    By:
    • Jansen, Anna C.;
    • Belousova, Elena;
    • Benedik, Mirjana P.;
    • Carter, Tom;
    • Cottin, Vincent;
    • Curatolo, Paolo;
    • D'Amato, Lisa;
    • Beaure d'Augères, Guillaume;
    • de Vries, Petrus J.;
    • Ferreira, José C.;
    • Feucht, Martha;
    • Fladrowski, Carla;
    • Hertzberg, Christoph;
    • Jozwiak, Sergiusz;
    • Lawson, John A.;
    • Macaya, Alfons;
    • Marques, Ruben;
    • Nabbout, Rima;
    • O'Callaghan, Finbar;
    • Qin, Jiong
    Publication type:
    Article
    35

    Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

    Published in:
    Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00705
    By:
    • Jansen, Anna C.;
    • Belousova, Elena;
    • Benedik, Mirjana P.;
    • Carter, Tom;
    • Cottin, Vincent;
    • Curatolo, Paolo;
    • Dahlin, Maria;
    • D'Amato, Lisa;
    • d'Augères, Guillaume Beaure;
    • de Vries, Petrus J.;
    • 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
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    Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism.

    Published in:
    Developmental Medicine & Child Neurology, 2015, v. 57, n. 2, p. 194, doi. 10.1111/dmcn.12574
    By:
    • Gataullina, Svetlana;
    • Delonlay, Pascale;
    • Lemaire, Eric;
    • Boddaert, Nathalie;
    • Bulteau, Christine;
    • Soufflet, Christine;
    • Laín, Gemma Aznar;
    • Nabbout, Rima;
    • Chiron, Catherine;
    • Dulac, Olivier
    Publication type:
    Article
    40
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    The ketogenic diet improves recently worsened focal epilepsy.

    Published in:
    Developmental Medicine & Child Neurology, 2009, v. 51, n. 4, p. 276, doi. 10.1111/j.1469-8749.2008.03216.x
    By:
    • VILLENEUVE, NATHALIE;
    • PINTON, FLORENCE;
    • BAHI-BUISSON, NADIA;
    • DULAC, OLIVIER;
    • CHIRON, CATHERINE;
    • NABBOUT, RIMA
    Publication type:
    Article
    42

    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 12, p. 3200
    By:
    • Martin, Hilary C.;
    • Kim, Grace E.;
    • Pagnamenta, Alistair T.;
    • Murakami, Yoshiko;
    • Carvill, Gemma L.;
    • Meyer, Esther;
    • Copley, Richard R.;
    • Rimmer, Andrew;
    • Barcia, Giulia;
    • Fleming, Matthew R.;
    • Kronengold, Jack;
    • Brown, Maile R.;
    • Hudspith, Karl A.;
    • Broxholme, John;
    • Kanapin, Alexander;
    • Cazier, Jean-Baptiste;
    • Kinoshita, Taroh;
    • Nabbout, Rima;
    • Bentley, David;
    • McVean, Gil
    Publication type:
    Article
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    Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).

    Published in:
    2021
    By:
    • Sauter, Matthias;
    • Belousova, Elena;
    • Benedik, Mirjana P.;
    • Carter, Tom;
    • Cottin, Vincent;
    • Curatolo, Paolo;
    • Dahlin, Maria;
    • D'Amato, Lisa;
    • d'Augères, Guillaume B.;
    • de Vries, Petrus J.;
    • 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:
    journal article
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    Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2148, doi. 10.1093/brain/awq143
    By:
    • Mills, Philippa B.;
    • Footitt, Emma J.;
    • Mills, Kevin A.;
    • Tuschl, Karin;
    • Aylett, Sarah;
    • Varadkar, Sophia;
    • Hemingway, Cheryl;
    • Marlow, Neil;
    • Rennie, Janet;
    • Baxter, Peter;
    • Dulac, Olivier;
    • Nabbout, Rima;
    • Craigen, William J.;
    • Schmitt, Bernhard;
    • Feillet, François;
    • Christensen, Ernst;
    • De Lonlay, Pascale;
    • Pike, Mike G.;
    • Hughes, M. Imelda;
    • Struys, Eduard A.
    Publication type:
    Article