Not logged inMonoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder
El Hayek, Lauretta; Gogate, Ashlesha; Chen, Wei-Chen; Kaur, Kiran; Zaki, Maha S.; De Wachter, Matthias; Van Schil, Kristof; Dublin-Ryan, Leeran; Zamani, Mina; Bartos, Meghan N.; Hiatt, Susan M.; Courdier, Cecile; Michaud, Vincent; Kenny, Janna; Day, Michael; Pang, Lewis; Nasab, Mahya Ebrahimi; Manshadi, Seyed Ali Madani; Eslahi, Atieh; Rasoul, Masoomeh Ale; Sanchez-Mendoza, Eduardo Humberto; DeLuca, Charles; Marafi, Dana; Stevens, Servi J. C.; Ivanovski, Ivan; Frey, Tanja; Steindl, Katharina; Rauch, Anita; O'Connor, Kaitlyn; Velinov, Milen; Shen, Xiaoming; Janssen, Etienne J. M.; Sedighzadeh, Sahar; Kordi-Tamandani, Dor Mohammad; Khajeh, Ali; Elshafie, Reem M.; Bastaki, Laila; Misra, Vinod K.; Firoozfar, Zahra; Goldenberg, Paula C.; Toosi, Mehran Beiraghi; Mojarrad, Majid; Kavanagh, Karl; Koboldt, Daniel C.; Margot, Henri; Hurst, Anna C. E.; Weber, Axel; Bergmann, Carsten; Houlden, Henry; Maroofian, Reza; Weis, Denisa; Ceulemans, Berten; Chahrour, Maria H.
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SaveAmitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study
De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Moller, Rikke S.; Bayat, Allan; Weckhuysen, Sarah
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SaveThe Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
Thys, Liene; Beysen, Diane; Ceulemans, Berten; Kenis, Sandra; Dielman, Charlotte; Roelens, Filip; Reyniers, Edwin; Mateiu, Ligia; Janssens, Katrien; Meuwissen, Marije
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SaveBurden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E. C.; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B.; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N.; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A.; Lalani, Seema R.; Streff, Haley; Kooy, R. Frank; Weckhuysen, Sarah
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SaveComprehensive 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, Amelie; Nabbout, Rima
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SaveGenotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
Gallagher, Declan; Perez-Palma, Eduardo; Bruenger, Tobias; Ghanty, Ismael; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Zuberi, Sameer M.; Lal, Dennis; Brunklaus, Andreas
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SaveGABRA1-Related Disorders: From Genetic to Functional Pathways
Musto, Elisa; Liao, Vivian W. Y.; Johannesen, Katrine M.; Fenger, Christina D.; Lederer, Damien; Kothur, Kavitha; Fisk, Katrina; Bennetts, Bruce; Vrielynck, Pascal; Delaby, Delphine; Ceulemans, Berten; Weckhuysen, Sarah; Sparber, Peter; Bouman, Arjan; Ardern-Holmes, Simone; Troedson, Christopher; Battaglia, Domenica I.; Goel, Himanshu; Feyma, Timothy; Bakhtiari, Somayeh; Tjoa, Linda; Boxill, Martin; Demina, Nina; Shchagina, Olga; Dadali, Elena; Kruer, Michael; Cantalupo, Gaetano; Contaldo, Ilaria; Polster, Tilman; Isidor, Bertrand; Bova, Stefania M.; Fazeli, Walid; Wouters, Leen; Miranda, Maria J.; Darra, Francesca; Pede, Elisa; Le Duc, Diana; Jamra, Rami Abou; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, Elena
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SaveFenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial
Sullivan, Joseph; Lagae, Lieven; Cross, J. Helen; Devinsky, Orrin; Guerrini, Renzo G.; Knupp, Kelly; Laux, Linda; Nikanorova, Marina; Polster, Tilman; Talwar, Dinesh; Ceulemans, Berten; Nabbout, Rima M.; Farfel, Gail S.; Galer, Bradley R.; Gammaitoni, Arnold; Lock, Michael; Agarwal, Anupam E.; Scheffer, Ingrid; FAiRE DS Study Grp
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SaveImpact of Fenfluramine on Drop Seizure Frequency in Adults or Dose-Capped Patients With Lennox-Gastaut Syndrome: Comparative Analysis of Clinical Trial Data
Knupp, Kelly G.; Scheffer, Ingrid E.; Ceulemans, Berten; Sullivan, Joseph; Nickels, Katherine C.; Lagae, Lieven; Guerrini, Renzo; Zuberi, Sameer M.; Nabbout, Rima; Riney, Kate; Polega, Shikha; Lothe, Amelie; Davis, Ronald; Gil-Nagel, Antonio
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SaveEffect of Fenfluramine on Generalized Tonic-Clonic Seizures in Rare Epilepsy Syndromes: A Review of Published Studies
Cross, J. Helen; Devinsky, Orrin; Gil-Nagel, Antonio; Ceulemans, Berten; Lagae, Lieven; Knupp, Kelly; Schoonjans, An-Sofie; Ryvlin, Philippe; Thiele, Elizabeth; Nabbout, Rima; Lothe, Amelie; Polega, Shikha
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SaveClinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy
Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De Liso, Paola; D'Onofrio, Gianluca; Boniver, Clementina; Danhaive, Olivier; Carkeek, Katherine; Salpietro, Vincenzo; Weckhuysen, Sarah; Fedrigo, Marny; Angelini, Annalisa; Castellotti, Barbara; Lederer, Damien; Benoit, Valerie; Raviglione, Federico; Guerrini, Renzo; Dilena, Robertino; Cilio, Maria Roberta
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SavePerampanel as precision therapy in rare genetic epilepsies
Nissenkorn, Andreea; Kluger, Gerhard; Schubert-Bast, Susanne; Bayat, Allan; Bobylova, Marya; Bonanni, Paolo; Ceulemans, Berten; Coppola, Antonietta; Di Bonaventura, Carlo; Feucht, Martha; Fuchs, Anne; Groeppel, Gudrun; Heimer, Gali; Herdt, Brigitte; Kulikova, Sviatlana; Mukhin, Konstantin; Nicassio, Stefania; Orsini, Alessandro; Panagiotou, Maria; Pringsheim, Milka; Puest, Burkhard; Pylaeva, Olga; Ramantani, Georgia; Tsekoura, Maria; Ricciardelli, Paolo; Lerman Sagie, Tally; Stark, Brigit; Striano, Pasquale; van Baalen, Andreas; De Wachter, Matthias; Cerulli Irelli, Emanuele; Cuccurullo, Claudia; von Stuelpnagel, Celina; Russo, Angelo
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SaveFunctional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
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SaveFenfluramine 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
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SaveClinical Investigation of French Maritime Pine Bark Extract on Attention-Deficit Hyperactivity Disorder as compared to Methylphenidate and Placebo: Part 1: Efficacy in a Randomised Trial
Weyns, Anne-Sophie; Verlaet, Annelies A. J.; Breynaert, Annelies; Naessens, Tania; Fransen, Erik; Verhelst, Helene; Van West, Dirk; Van Ingelghem, Ingrid; Jonckheere, An I.; Beysen, Diane; Kenis, Sandra; Moens, Els; van Roest, Aalt P. J.; Savelkoul, Huub F. J.; De Bruyne, Tess; Pieters, Luc; Ceulemans, Berten; Hermans, Nina
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SaveClinical Investigation of French Maritime Pine Bark Extract on Attention-Deficit Hyperactivity Disorder as compared to Methylphenidate and Placebo: Part 2: Oxidative Stress and Immunological Modulation
Weyns, Anne-Sophie; Verlaet, Annelies A. J.; Van Herreweghe, Maxim; Breynaert, Annelies; Fransen, Erik; De Meester, Ingrid; Logie, Emilie; Vanden Berghe, Wim; Verhelst, Helene; Van West, Dirk; Van Ingelghem, Ingrid; Jonckheere, An I.; Beysen, Diane; Kenis, Sandra; Moens, Els; van Roest, Aalt P. J.; Savelkoul, Huub F. J.; De Bruyne, Tess; Pieters, Luc; Ceulemans, Berten; Hermans, Nina
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SaveDevelopment and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
Brunklaus, Andreas; Perez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Kattan, Michael W.; Zuberi, Sameer M.; Lal, Dennis
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