Article
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain : a journal of neurology - 3 May 2024
Rinaldi Berardo, Bayat Allan, Zachariassen Linda G, Sun Jia-Hui, Ge Yu-Han, Zhao Dan, Bonde Kristine, Madsen Laura H, Awad Ilham Abdimunim Ali, Bagiran Duygu, Sbeih Amal, Shah Syeda Maidah, El-Sayed Shaymaa, Lyngby Signe M, Pedersen Miriam G, Stenum-Berg Charlotte, Walker Louise Claudia, Krey Ilona, Delahaye-Duriez Andrée, Emrick Lisa T, Sully Krystal, Murali Chaya N, Burrage Lindsay C, Plaud Gonzalez Julie Ana, Parnes Mered, Friedman Jennifer, Isidor Bertrand, Lefranc Jérémie, Redon Sylvia, Heron Delphine, Mignot Cyril, Keren Boris, Fradin Mélanie, Dubourg Christele, Mercier Sandra, Besnard Thomas, Cogne Benjamin, Deb Wallid, Rivier Clotilde, Milani Donatella, Bedeschi Maria Francesca, Di Napoli Claudia, Grilli Federico, Marchisio Paola, Koudijs Suzanna, Veenma Danielle, Argilli Emanuela, Lynch Sally Ann, Au Ping Yee Billie, Ayala Valenzuela Fernando Eduardo, Brown Carolyn, Masser-Frye Diane, Jones Marilyn, Patron Romero Leslie, Li Wenhui Laura, Thorpe Erin, Hecher Laura, Johannsen Jessika, Denecke Jonas, McNiven Vanda, Szuto Anna, Wakeling Emma, Cruz Vincent, Sency Valerie, Wang Heng, Piard Juliette, Kortüm Fanny, Herget Theresia, Bierhals Tatjana, Condell Angelo, Ben-Zeev Bruria, Kaur Simranpreet, Christodoulou John, Piton Amelie, Zweier Christiane, Kraus Cornelia, Micalizzi Alessia, Trivisano Marina, Specchio Nicola, Lesca Gaetan, Møller Rikke S, Tümer Zeynep, Musgaard Maria, Gerard Benedicte, Lemke Johannes R, Shi Yun Stone, Kristensen Anders S
Abstract excerpt
AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined...
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