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

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Epilepsia - ISSN 0013-9580- (2024) p.
Auteur(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

Developmental epileptic encephalopathy in DLG4-related synaptopathy

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Epilepsia - ISSN 0013-9580- (2024) p.
Auteur(s)
    Benedetta Kassabian, Amanda M. Levy, Elena Gardella, Angel Aledo-Serrano, Amitha L. Ananth, Alejandro J. Brea-Fernandez, Roseline Caumes, Nicolas Chatron, Alice Dainelli, Matthias De Wachter, Anne-Sophie Denomme-Pichon, Thomas J. Dye, Elisa Fazzi, Roxanne Felt, Alberto Fernandez-Jaen, Montse Fernandez-Prieto, Emily Gantz, Piotr Gasperowicz, Antonio Gil-Nagel, David Gomez-Andres, Hansel M. Greiner, Renzo Guerrini, Maria K. Haanpaeae, Minttu Helin, Juliane Hoyer, Anna C. E. Hurst, Staci Kallish, Shefali N. Karkare, Amjad Khan, Lotte Kleinendorst, Johannes Koch, Sanjeev V. Kothare, Suzanna M. Koudijs, Lieven Lagae, Phillis Lakeman, Kathleen A. Leppig, Gaetan Lesca, Diego Lopergolo, Laina Lusk, Alex Mackenzie, Davide Mei, Rikke S. Moller, Elaine M. Pereira, Konrad Platzer, Chloe Quelin, Anya Revah-Politi, Sylvain Rheims, Agusti Rodriguez-Palmero, Sarah Weckhuysen, Guido Rubboli

Drug resistant epilepsy and associated factors among children with epilepsies in tanzania : a cross-sectional study

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BMC neurology - ISSN 1471-2377-24:1 (2024) p. 1-7
Auteur(s)

GABRA1‐related disorders : from genetic to functional pathways

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Annals of neurology - ISSN 0364-5134-91:1 (2024) p. 27-41
Auteur(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