Search Results - "Desnous, Beatrice"

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability by Khosrowabadi, Elham, Mignon-Ravix, Cécile, Riccardi, Florence, Cacciagli, Pierre, Desnous, Béatrice, Sigaudy, Sabine, Milh, Mathieu, Villard, Laurent, Kjellén, Lena, Molinari, Florence

“…Abstract Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous…”
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Serious Game with Electromyography Feedback and Physical Therapy in Young Children with Unilateral Spastic Cerebral Palsy and Equinus Gait: A Prospective Open-Label Study by Boulay, Christophe, Gracies, Jean-Michel, Garcia, Lauren, Authier, Guillaume, Ulian, Alexis, Pradines, Maud, Vieira, Taian Martins, Pinto, Talita, Gazzoni, Marco, Desnous, Béatrice, Parratte, Bernard, Pesenti, Sébastien

“…The clinical effects of a serious game with electromyography feedback (EMGs_SG) and physical therapy (PT) was investigated prospectively in children with…”
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Intellectual outcome from 1 to 5 years after epilepsy surgery in 81 children and adolescents: A longitudinal study by Laguitton, Virginie, Desnous, Béatrice, Lépine, Anne, McGonigal, Aileen, Mancini, Julien, Daquin, Géraldine, Girard, Nadine, Scavarda, Didier, Trébuchon, Agnès, Milh, Mathieu, Bartolomei, Fabrice, Villeneuve, Nathalie

“…This longitudinal study aimed to measure the time course of intellectual changes after pediatric focal resective epilepsy surgery and to identify their…”
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Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 ) by Curie, Aurore, Lion-François, Laurence, Valayannopoulos, Vassili, Perreton, Nathalie, Gavanon, Marie, Touil, Nathalie, Brun-Laurisse, Amandine, Gheurbi, Fahra, Buchy, Marion, Halep, Hulya, Cheillan, David, Mercier, Catherine, Brassier, Anaïs, Desnous, Béatrice, Kassai, Behrouz, De Lonlay, Pascale, Des Portes, Vincent

“…Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical…”
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Anti‐ictogenic and antiepileptogenic properties of perampanel in mature and immature rats by Dupuis, Nina, Enderlin, Julie, Thomas, Jeremy, Desnous, Béatrice, Dournaud, Pascal, Allorge, Delphine, Auvin, Stéphane

“…Summary Objective Perampanel (PER) is a selective noncompetitive antagonist at α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptors, the first of its…”
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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 by 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

“…Objective γ‐Aminobutyric acid (GABA)A‐receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype…”
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Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes by Angelini, Chloé, Durand, Christelle Marie, Fergelot, Patricia, Deforges, Julie, Vital, Anne, Menegon, Patrice, Sarrazin, Elizabeth, Bellance, Rémi, Mathis, Stéphane, Gonzalez, Victoria, Renaud, Mathilde, Frismand, Solène, Schmitt, Emmanuelle, Rouanet, Marie, Burglen, Lydie, Chabrol, Brigitte, Desnous, Béatrice, Arveiler, Benoît, Stevanin, Giovanni, Coupry, Isabelle, Goizet, Cyril

“…Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first…”
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Anti‐ictogenic and antiepileptogenic properties of brivaracetam in mature and immature rats by Dupuis, Nina, Matagne, Alain, Staelens, Ludovicus, Dournaud, Pascal, Desnous, Béatrice, Gressens, Pierre, Auvin, Stéphane

“…Summary Objective Brivaracetam (BRV) is a new antiepileptic drug candidate rationally designed for high affinity and selectivity for the synaptic vesicle…”
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Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome by Desnous, Béatrice, Beretti, Thibault, Muller, Nathan, Neveu, Julien, Villeneuve, Nathalie, Lépine, Anne, Daquin, Géraldine, Milh, Mathieu

“…We aim to assess the efficacy and tolerance of cannabidiol as adjunctive therapy for Rett syndrome (RTT) patients with epilepsy. We conducted a longitudinal…”
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Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study by D'Onofrio, Gianluca, Kuchenbuch, Mathieu, Hachon-Le Camus, Caroline, Desnous, Béatrice, Staath, Véronique, Napuri, Sylvia, Ville, Dorothée, Pedespan, Jean-Michel, Lépine, Anne, Cances, Claude, de Saint-Martin, Anne, Teng, Théo, Chemaly, Nicole, Milh, Mathieu, Villeneuve, Nathalie, Nabbout, Rima

“…Objective: To assess adverse events (AEs) and efficacy of add-on cannabidiol (CBD) with a slower titration protocol in pediatric clinical practice. Methods: We…”
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De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy by Guey, Stéphanie, Grangeon, Lou, Brunelle, Francis, Bergametti, Françoise, Amiel, Jeanne, Lyonnet, Stanislas, Delaforge, Audrey, Arnould, Minh, Desnous, Béatrice, Bellesme, Céline, Hervé, Dominique, Schwitalla, Jan C, Kraemer, Markus, Tournier-Lasserve, Elisabeth, Kossorotoff, Manoelle

“…Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal…”
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Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) by Rochat, Julie, Blavier, André, Ruet, Séverine, Vasseur, Sophie, Puma, Angela, Desnous, Béatrice, Chan, Victor, Delmont, Emilien, Attarian, Shahram, Juntas Morales, Raul, Quadrio, Isabelle, Vidoni, Léo, Bonello-Palot, Nathalie, Cheillan, David

“…Hereditary sensory and autonomic neuropathy type 1 is an autosomal dominant neuropathy caused by the or variants. These variants modify the preferred substrate…”
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What is the optimal duration for vigabatrin monotherapy in patients with infantile spasms: 6 months or longer? by Desnous, Béatrice, Lenoir, Marien, Bitton, Jonathan Y., Arbour, Mélina, Villeneuve, Nathalie, Whiting, Sharon, Mohammed, Ismail, Wirrell, Elaine C., Bello-Espinosa, Luis, Ronen, Gabriel M, Lortie, Anne, Birca, Ala

“…Vigabatrin (VGB) is approved as monotherapy for pediatric patients with Infantile Spasms (IS). Duration of VGB use should be limited because of the risk of…”
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Cognitive outcome in children with infantile spasms using a standardized treatment protocol. A five-year longitudinal study by Bitton, Jonathan Y., Desnous, Béatrice, Sauerwein, Hannelore C., Connolly, Mary, Weiss, Shelly K., Donner, Elizabeth J., Whiting, Sharon, Mohamed, Ismail S., Wirrell, Elaine C., Ronen, Gabriel M., Lortie, Anne

“…•Children with non-identified etiology (NIE) infantile spasm (IS) showed a gradual cognitive improvement over the initial five years.•80% of children with…”
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Diagnosis delay in West syndrome: misdiagnosis and consequences by Auvin, Stéphane, Hartman, Adam L., Desnous, Béatrice, Moreau, Anne-Christine, Alberti, Corinne, Delanoe, Catherine, Romano, Alfonso, Terrone, Gaetano, Kossoff, Eric H., Del Giudice, Ennio, Titomanlio, Luigi

“…West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very…”
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Pro-epileptogenic effects of viral-like inflammation in both mature and immature brains by Dupuis, Nina, Mazarati, Andrey, Desnous, Béatrice, Chhor, Vibol, Fleiss, Bobbi, Le Charpentier, Tifenn, Lebon, Sophie, Csaba, Zsolt, Gressens, Pierre, Dournaud, Pascal, Auvin, Stéphane

“…Infectious encephalitides are most often associated with acute seizures during the infection period and are risk factors for the development of epilepsy at…”
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Kingella kingae Sequence Type 25 Causing Endocarditis with Multiple and Severe Cerebral Complications by Le Bourgeois, Fleur, MD, Germanaud, David, MD, PhD, Bendavid, Matthieu, MD, Bonnefoy, Ronan, MD, Desnous, Béatrice, MD, Beyler, Constance, MD, Blauwblomme, Thomas, MD, Elmaleh, Monique, MD, Pierron, Charlotte, MD, Lorrot, Mathie, MD, PhD, Bonacorsi, Stéphane, MD, PhD, Basmaci, Romain, MD, PhD

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Impacts of an Interdisciplinary Developmental Follow-Up Program on Neurodevelopment in Congenital Heart Disease: The CINC Study by Fourdain, Solène, Caron-Desrochers, Laura, Simard, Marie-Noëlle, Provost, Sarah, Doussau, Amélie, Gagnon, Karine, Dagenais, Lynn, Presutto, Émilie, Prud'homme, Joëlle, Boudreault-Trudeau, Annabelle, Constantin, Ioana Medeleine, Desnous, Béatrice, Poirier, Nancy, Gallagher, Anne

“…Objectives: This study investigates the impact of an early systematic interdisciplinary developmental follow-up and individualized intervention program on the…”
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Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD) by Lenoir, Marien, Beretti, Thibault, Testud, Benoit, Resseguier, Noémie, Gauthier, Kim, Fouilloux, Virginie, Gran, Célia, Paoli, Florent, El-Louali, Fedoua, Aldebert, Philippe, Blanc, Julie, Soulatges, Camille, Al-Dybiat, Sarab, Carles, Guillaume, Wanert, Chloe, Rozalen, William, Lebel, Stéphane, Arnaud, Sophie, Santelli, Dominique, Allary, Chloé, Peyre, Marianne, Grandvuillemin, Isabelle, Desroberts, Clotilde, Alaoui, Myriem Belghiti, Boubred, Farid, Michel, Fabrice, Ovaert, Caroline, Milh, Mathieu, François, Clément, Desnous, Béatrice

“…More than half of infants with complex congenital heart disease (CHD) will have a neurodevelopmental disorder of multifactorial causes. The preoperative period…”
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Right Ventricular Outflow Tract Reconstruction in Truncus Arteriosus: A 30-Year Two-Center Comparison between Homografts and Bovine Jugular Vein by Boshnakov, Ventsislav, Mitev, Ivaylo, Lazarov, Stojan, Pechilkov, Dimitar, Desnous, Beatrice, Louali, Fedoua El, Macé, Loic, Fouilloux, Virginie, Lenoir, Marien

“…Homografts and bovine jugular vein are the most commonly used conduits for right ventricular outflow tract reconstruction at the time of primary repair of…”
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