TY  - JOUR
AU  - Santos-Gomez, Ana
AU  - Miguez-Cabello, Federico
AU  - Julia-Palacios, Natalia
AU  - Garcia-Navas, Deyanira
AU  - Soto-Insuga, Victor
AU  - Garcia-Penas, Juan J.
AU  - Fuentes, Patricia
AU  - Ibanez-Mico, Salvador
AU  - Cuesta, Laura
AU  - Cancho, Ramon
AU  - Andreo-Lillo, Patricia
AU  - Gutierrez-Aguilar, Gema
AU  - Alonso-Luengo, Olga
AU  - Malaga, Ignacio
AU  - Hedrera-Fernandez, Antonio
AU  - Garcia-Cazorla, Angels
AU  - Soto, David
AU  - Olivella, Mireia
AU  - Altafaj, Xavier
PY  - 2021
DO  - 10.3390/ijms222312656
UR  - https://hdl.handle.net/10668/25066
T2  - International journal of molecular sciences
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  - en
PB  - Mdpi
KW  - GRIN-related disorders
KW  - glutamatergic neurotransmission
KW  - NMDA receptors
KW  - neurodevelopmental disorders
KW  - Synaptic plasticity
KW  - Nmda
KW  - Mutations
TI  - Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
TY  - research article
VL  - 22
ER  -