Benedetta Kassabian, Amanda M Levy, Elena Gardella, Angel Aledo-Serrano, Amitha L Ananth, Alejandro J Brea-Fernández, Roseline Caumes, Nicolas Chatron, Alice Dainelli, Matthias De Wachter, Anne-Sophie Denommé-Pichon, Thomas J Dye, Elisa Fazzi, Roxanne Felt, Alberto Fernández-Jaén, Montserrat Fernández-Prieto, Emily Gantz, Piotr Gasperowicz, Antonio Gil-Nagel, David Gómez-Andrés, Hansel M Greiner, Renzo Guerrini, Maria K Haanpää, Minttu Helin, Juliane Hoyer, Anna C E Hurst, Staci Kallish, Shefali N Karkare, Amjad Khan, Lotte Kleinendorst, Johannes Koch, Sanjeev V Kothare, Suzanna V Koudijs, Lieven Lagae, Phillis Lakeman, Kathleen A Leppig, Gaetan Lesca, Diego Lopergolo, Laina Lusk, Alex Mackenzie, Davide Mei, Rikke S Møller, Elaine M Pereira, Konrad Platzer, Chloe Quelin, Anya Revah-Politi, Sylvain Rheims, Agustí Rodríguez-Palmero, Andrea Rossi, Filippo Santorelli, Syndi Seinfeld, Erick Sell, Donna Stephenson, Krzysztof Szczaluba, Eugen Trinka, Muhammad Umair, Hilde Van Esch, Mieke M van Haelst, Danielle C M Veenma, Sacha Weber, Sarah Weckhuysen, Pia Zacher, Zeynep Tümer, Guido Rubboli
OBJECTIVE: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by DLG4, de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy...
December 22, 2023: Epilepsia