Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: a case series and a literature appraisal
Barcia, Giulia, Scorrano, Giovanna, Rio, Marlène, Gitiaux, Cyril, Hully, Marie, Poirier, Karine, Besmond, Claude, Munnich, Arnold, Boddaert, Nathalie, Chemaly, Nicole, Nabbout, Rima
Published in European journal of medical genetics (16.10.2024)
Published in European journal of medical genetics (16.10.2024)
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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation
Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, Bellescize, Julietta, Villard, Laurent, Saint Martin, Anne, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.10.2022)
Published in Epilepsia (Copenhagen) (01.10.2022)
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Adjunctive everolimus therapy for tuberous sclerosis complex‐associated refractory seizures: Results from the postextension phase of EXIST‐3
Franz, David N., Lawson, John A., Yapici, Zuhal, Ikeda, Hiroko, Polster, Tilman, Nabbout, Rima, Curatolo, Paolo, Vries, Petrus J., Dlugos, Dennis J., Herbst, Fabian, Peyrard, Severine, Pelov, Diana, French, Jacqueline A.
Published in Epilepsia (Copenhagen) (01.12.2021)
Published in Epilepsia (Copenhagen) (01.12.2021)
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Patients with Dravet Syndrome in the Era of Stiripentol: A French Cohort Cross-Sectional Study
De Liso, Paola, Chemaly, Nicole, Laschet, Jacques, Barnerias, Christine, Hully, Marie, Leunen, Dorothée, Desguerre, Isabelle, Chiron, Catherine, Dulac, Olivier, Nabbout, Rima
Published in Epilepsy research (01.09.2016)
Published in Epilepsy research (01.09.2016)
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Chloride deregulation and GABA depolarization in MTOR related malformations of cortical development
Bakouh, Naziha, Castaño-Martín, Reyes, Metais, Alice, Dan, Emanuela Loredana, Balducci, Estelle, Chhuon, Cerina, Lepicka, Joanna, Barcia, Giulia, Losito, Emma, Lourdel, Stéphane, Planelles, Gabrielle, Muresan, Raul C, Moca, Vasile Vlad, Kaminska, Anna, Bourgeois, Marie, Chemaly, Nicole, Rguez, Yasmine, Auvin, Stéphane, Huberfeld, Gilles, Varlet, Pascale, Asnafi, Vahid, Guerrera, Ida Chiara, Kabashi, Edor, Nabbout, Rima, Ciura, Sorana, Blauwblomme, Thomas
Published in Brain (London, England : 1878) (06.08.2024)
Published in Brain (London, England : 1878) (06.08.2024)
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Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment
Bishop, Kim I., Isquith, Peter K., Gioia, Gerard A., Knupp, Kelly G., Scheffer, Ingrid E., Nabbout, Rima, Specchio, Nicola, Sullivan, Joseph, Auvin, Stéphane, Helen Cross, J., Guerrini, Renzo, Farfel, Gail, Galer, Bradley S., Gammaitoni, Arnold R.
Published in Epilepsy & behavior (01.01.2023)
Published in Epilepsy & behavior (01.01.2023)
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Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel
Published in Human molecular genetics (15.11.2010)
Published in Human molecular genetics (15.11.2010)
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Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study
Knupp, Kelly G., Scheffer, Ingrid E., Ceulemans, Berten, Sullivan, Joseph, Nickels, Katherine C., Lagae, Lieven, Guerrini, Renzo, Zuberi, Sameer M., Nabbout, Rima, Riney, Kate, Agarwal, Anupam, Lock, Michael, Dai, David, Farfel, Gail M., Galer, Bradley S., Gammaitoni, Arnold R., Polega, Shikha, Davis, Ronald, Gil‐Nagel, Antonio
Published in Epilepsia (Copenhagen) (01.01.2023)
Published in Epilepsia (Copenhagen) (01.01.2023)
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Recommendations for whole genome sequencing in diagnostics for rare diseases
Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy
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, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions
Curatolo, Paolo, Bjørnvold, Marit, Dill, Patricia E., Ferreira, José Carlos, Feucht, Martha, Hertzberg, Christoph, Jansen, Anna, Jóźwiak, Sergiusz, Kingswood, J. Christopher, Kotulska, Katarzyna, Macaya, Alfons, Moavero, Romina, Nabbout, Rima, Zonnenberg, Bernard A.
Published in Drugs (New York, N.Y.) (01.04.2016)
Published in Drugs (New York, N.Y.) (01.04.2016)
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Detection of seizure onset in childhood absence epilepsy
Aud'hui, M., Kachenoura, A., Yochum, M., Kaminska, A., Nabbout, R., Wendling, F., Kuchenbuch, M., Benquet, P.
Published in Clinical neurophysiology (01.07.2024)
Published in Clinical neurophysiology (01.07.2024)
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Comprehensive scoping review of fenfluramine's role in managing generalized tonic–clonic seizures in developmental and epileptic encephalopathies
Gil‐Nagel, Antonio, Cross, J. Helen, Devinsky, Orrin, Ceulemans, Berten, Lagae, Lieven, Knupp, Kelly, Schoonjans, An‐Sofie, Ryvlin, Philippe, Thiele, Elizabeth A., Polega, Shikha, Lothe, Amélie, Nabbout, Rima
Published in Epilepsia (Copenhagen) (01.08.2024)
Published in Epilepsia (Copenhagen) (01.08.2024)
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Clinical and radiological description of 120 pediatric stroke‐like episodes
Durrleman, Chloe, Grevent, David, Aubart, Melodie, Kossorotoff, Manoelle, Roux, Charles‐Joris, Kaminska, Anna, Rio, Marlene, Barcia, Giulia, Boddaert, Nathalie, Munnich, Arnold, Nabbout, Rima, Desguerre, Isabelle
Published in European journal of neurology (01.07.2023)
Published in European journal of neurology (01.07.2023)
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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
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, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
Kuchenbuch, Mathieu, Barcia, Giulia, Chemaly, Nicole, Carme, Emilie, Roubertie, Agathe, Gibaud, Marc, Van Bogaert, Patrick, de Saint Martin, Anne, Hirsch, Edouard, Dubois, Fanny, Sarret, Catherine, Nguyen The Tich, Sylvie, Laroche, Cecile, des Portes, Vincent, Billette de Villemeur, Thierry, Barthez, Marie-Anne, Auvin, Stéphane, Bahi-Buisson, Nadia, Desguerre, Isabelle, Kaminska, Anna, Benquet, Pascal, Nabbout, Rima
Published in Brain (London, England : 1878) (01.10.2019)
Published in Brain (London, England : 1878) (01.10.2019)
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Retrospective chart review study of use of cannabidiol (CBD) independent of concomitant clobazam use in patients with Lennox-Gastaut syndrome or Dravet syndrome
Nabbout, Rima, Arzimanoglou, Alexis, Auvin, Stéphane, Berquin, Patrick, Desurkar, Archana, Fuller, Douglas, Nortvedt, Charlotte, Pulitano, Patrizia, Rosati, Anna, Soto, Victor, Villanueva, Vicente, Cross, J. Helen
Published in Seizure (London, England) (01.08.2023)
Published in Seizure (London, England) (01.08.2023)
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Transition: Driving and exercise
Nashef, Lina, Capovilla, Giuseppe, Camfield, Carol, Camfield, Peter, Nabbout, Rima
Published in Epilepsia (Copenhagen) (01.08.2014)
Published in Epilepsia (Copenhagen) (01.08.2014)
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SYNGAP1-DEE: A visual sensitive epilepsy
Lo Barco, Tommaso, Kaminska, Anna, Solazzi, Roberta, Cancés, Claude, Barcia, Giulia, Chemaly, Nicole, Fontana, Elena, Desguerre, Isabelle, Canafoglia, Laura, Hachon Le Camus, Caroline, Losito, Emma, Villard, Laurent, Eisermann, Monika, Dalla Bernardina, Bernardo, Villeneuve, Nathalie, Nabbout, Rima
Published in Clinical neurophysiology (01.04.2021)
Published in Clinical neurophysiology (01.04.2021)
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