Gain-of-function and Loss-of-function Variants in GRIA3 Lead to Distinct Neurodevelopmental Phenotypes.
Berardo Rinaldi,Allan Bayat,Linda G. Zachariassen,Jia-Hui 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, Miriam G. Pedersen,Charlotte Stenum-Berg, Louise Claudia Walker,Ilona Krey,Andree Delahaye-Duriez,Lisa T. Emrick,Krystal Sully,Chaya N. Murali,Lindsay C. Burrage, Julie Ana Plaud Gonzalez,Mered Parnes,Jennifer Friedman,Bertrand Isidor,Jeremie Lefranc,Sylvia Redon,Delphine Heron,Cyril Mignot,Boris Keren,Melanie Fradin,Christele Dubourg,Sandra Mercier,Thomas Besnard,Benjamin Cogne,Wallid Deb,Clotilde Rivier,Donatella Milani,Maria Francesca Bedeschi, Claudia Di Napoli,Federico Grilli,Paola Marchisio, Suzanna Koudijs, Danielle Veenma,Emanuela Argilli,Sally Ann Lynch,Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela,Carolyn Brown,Diane Masser-Frye,Marilyn Jones,Leslie Patron Romero, Wenhui Laura Li,Erin Thorpe,Laura Hecher,Jessika Johannsen,Jonas Denecke,Vanda McNiven,Anna Szuto,Emma Wakeling,Vincent Cruz,Valerie Sency, Heng Wang,Juliette Piard,Fanny Kortuem,Theresia Herget,Tatjana Bierhals, Angelo Condell,Bruria Ben-Zeev,Simranpreet Kaur,John Christodoulou,Amelie Piton,Christiane Zweier,Cornelia Kraus,Alessia Micalizzi,Marina Trivisano,Nicola Specchio,Gaetan Lesca,Rikke S. Moller,Zeynep Tumer,Maria Musgaard,Benedicte Gerard,Johannes R. Lemke,Yun Stone Shi,Anders S. Kristensen
BRAIN（2024）
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关键词
AMPA receptor,GRIA,GRIA3,clinical biomarker,genotype-phenotype
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