Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

Source
European journal of human genetics - ISSN 1018-4813- (2024) p.
Author(s)
    Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B. Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N. Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A. Rosenfeld, Seema R. Lalani, Haley Streff, Frank Kooy, Sarah Weckhuysen

Comprehensive scoping review of fenfluramine's role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies

Source
Epilepsia - ISSN 0013-9580-65:8 (2024) p. 2186-2199
Author(s)
    Antonio Gil-Nagel, J. Helen Cross, Orrin Devinsky, Berten Ceulemans, Lieven Lagae, Kelly Knupp, An-Sofie Schoonjans, Philippe Ryvlin, Elizabeth A. Thiele, Shikha Polega, Amelie Lothe, Rima Nabbout

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies

Source
Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1046-1059
Author(s)
    Declan Gallagher, Eduardo Perez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Moller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An-Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

GABRA1‐related disorders : from genetic to functional pathways

Source
Annals of neurology - ISSN 0364-5134-91:1 (2024) p. 27-41
Author(s)
    Elisa Musto, Vivian W.Y. Liao, Katrine M. Johannesen, Christina D. Fenger, Damien Lederer, Kavitha Kothur, Katrina Fisk, Bruce Bennetts, Pascal Vrielynck, Delphine Delaby, Berten Ceulemans, Sarah Weckhuysen, Peter Sparber, Arjan Bouman, Simone Ardern‐Holmes, Christopher Troedson, Domenica I. Battaglia, Himanshu Goel, Timothy Feyma, Somayeh Bakhtiari, Linda Tjoa, Martin Boxill, Nina Demina, Olga Shchagina, Elena Dadali, Michael Kruer, Gaetano Cantalupo, Ilaria Contaldo, Tilman Polster, Bertrand Isidor, Stefania M. Bova, Walid Fazeli, Leen Wouters, Maria J. Miranda, Francesca Darra, Elisa Pede, Diana Le Duc, Rami Abou Jamra, Sébastien Küry, Jacopo Proietti, Niamh McSweeney, Elly Brokamp, Peter Ian Andrews, Marie Gouray Garcia, Mary Chebib, Rikke S. Møller, Philip K. Ahring, Elena Gardella