Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

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 (NMDA) type ionotropic glutamate receptors. A growi...

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Detalles Bibliográficos
Autores principales: Santos-Gómez, Ana, Miguez-Cabello, Federico, Juliá-Palacios, Natalia, García-Navas, Deyanira, Soto-Insuga, Víctor, García-Peñas, Juan J., Fuentes, Patricia, Ibáñez-Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo-Lillo, Patricia, Gutiérrez-Aguilar, Gema, Alonso-Luengo, Olga, Málaga, Ignacio, Hedrera-Fernández, Antonio, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657601/
https://www.ncbi.nlm.nih.gov/pubmed/34884460
http://dx.doi.org/10.3390/ijms222312656

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