TY - JOUR AU - Santos Gómez, Ana AU - Míguez Cabello, Federico AU - Juliá Palacios, Natalia AU - García Navas, Deyanira AU - Soto Insuga, Víctor AU - García Peñas, Juan J. AU - Fuentes, Patricia AU - Ibáñez Micó, Salvador AU - Cuesta, Laura AU - Cancho Candela, Ramón AU - Andreo Lillo, Patricia AU - Gutiérrez Aguilar, Gema AU - Alonso Luengo, Olga AU - Málaga, Ignacio AU - Hedrera Fernández, Antonio AU - García Cazorla, Àngels AU - Soto, David AU - Olivella, Mireia AU - Altafaj, Xavier PY - 2021 UR - https://uvadoc.uva.es/handle/10324/64711 AB - Background: GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting GRIN genes (mostly GRIN1, GRIN2A and GRIN2B genes), which encode for the GluN subunit of the N-methyl D-aspartate... LA - spa PB - MDPI TI - Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum DO - 10.3390/ijms222312656 ER -