@article{rinaldi:hal-04386909,
TITLE = {Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes},
AUTHOR = {Rinaldi, Berardo and Bayat, Allan and Zachariassen, Linda and Sun, Jia-Hui and Ge, Yu-Han and Zhao, Dan and Bonde, Kristine and Madsen, Laura and Awad, Ilham Abdimunim Ali and Bagiran, Duygu and Sbeih, Amal and Shah, Syeda Maidah and El-Sayed, Shaymaa and Lyngby, Signe and Pedersen, Miriam and Stenum-Berg, Charlotte and Walker, Louise Claudia and Krey, Ilona and Delahaye-Duriez, Andr{\'e}e and Emrick, Lisa and Sully, Krystal and Murali, Chaya and Burrage, Lindsay and Plaud Gonzalez, Julie Ana and Parnes, Mered and Friedman, Jennifer and Isidor, Bertrand and Lefranc, J{\'e}r{\'e}mie and Redon, Sylvia and Heron, Delphine and Mignot, Cyril and Keren, Boris and Fradin, M{\'e}lanie and Dubourg, Christele and Mercier, Sandra and Besnard, Thomas and Cogne, Benjamin and Deb, Wallid and Rivier, Clotilde and Milani, Donatella and Bedeschi, Maria Francesca and Di Napoli, Claudia and Grilli, Federico and Marchisio, Paola and Koudijs, Suzanna and Veenma, Danielle and Argilli, Emanuela and Lynch, Sally Ann and Au, Ping Yee Billie and Ayala Valenzuela, Fernando Eduardo and Brown, Carolyn and Masser-Frye, Diane and Jones, Marilyn and Patron Romero, Leslie and Li, Wenhui Laura and Thorpe, Erin and Hecher, Laura and Johannsen, Jessika and Denecke, Jonas and Mcniven, Vanda and Szuto, Anna and Wakeling, Emma and Cruz, Vincent and Sency, Valerie and Wang, Heng and Piard, Juliette and Kort{\"u}m, Fanny and Herget, Theresia and Bierhals, Tatjana and Condell, Angelo and Zeev, Bruria Ben and Kaur, Simranpreet and Christodoulou, John and Piton, Amelie and Zweier, Christiane and Kraus, Cornelia and Micalizzi, Alessia and Trivisano, Marina and Specchio, Nicola and Lesca, Gaetan and M{\o}ller, Rikke and T{\"u}mer, Zeynep and Musgaard, Maria and Gerard, Benedicte and Lemke, Johannes and Shi, Yun Stone and Kristensen, Anders},
URL = {https://univ-rennes.hal.science/hal-04386909},
JOURNAL = {Brain - A Journal of Neurology },
PUBLISHER = {Oxford University Press},
YEAR = {2023},
MONTH = Dec, DOI = {10.1093/brain/awad403},
KEYWORDS = {AMPA receptor ; GRIA ; GRIA3 ; clinical biomarker ; genotype-phenotype},
PDF = {https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdf},
HAL_ID = {hal-04386909},
HAL_VERSION = {v1},
}