<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Anna-Elina Lehesjoki, Hongjie Yuan et al.|Journal of Medical Genetics|2017Cited by 254
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Alison M. Muir, Reza Maroofian et al.|Nature Communications|2019Cited by 249
Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Henry Houlden, Reza Maroofian et al.|Brain|2022Cited by 42