Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

B. Rinaldi, Allan Bayat, L. Zachariassen, Jiahui Sun, Yu‑Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M. Lyngby, M. G. Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, A. Delahaye-Duriez, Lisa T. Emrick, K. Sully, C. Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, M. Parnes, Jennifer Friedman, B. Isidor, J. Lefranc, S. Redon, Delphine Héron, C. Mignot, B. Keren, M. Fradin, C. Dubourg, S. Mercier, T. Besnard, B. Cogné, W. Deb, C. Rivier, D. Milani, M. Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna V Koudijs, D. Veenma, E. Argilli, S. Lynch, Ping-Yee B Au, Fernando Eduardo Ayala Valenzuela, Carolyn M Brown, D. Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, L. Hecher, J. Johannsen, J. Denecke, Vanda McNiven, A. Szuto, E. Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, J. Piard, F. Kortüm, Theresia Herget, T. Bierhals, Angelo Condell, B. B. Zeev, S. Kaur, J. Christodoulou, A. Piton, C. Zweier, C. Kraus, A. Micalizzi, M. Trivisano, N. Specchio, G. Lesca, R. Møller, Z. Tümer, Maria Musgaard, B. Gérard, Johannes R. Lemke, Y. Shi, A. S. Kristensen

Brain : a journal of neurology, 2023