Paradigmatic De Novo <i>GRIN1</i> Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

Paradigmatic De Novo <i>GRIN1</i> 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 <i>GRIN</i> genes (mostly <i>GRIN1</i>, <i>GRIN2A</i> and <i>GRIN2B</i> genes), which encode for the GluN subunit of...

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Bibliographic Details
Main Authors: Ana Santos-Gómez, Federico Miguez-Cabello, Natalia Juliá-Palacios, Deyanira García-Navas, Víctor Soto-Insuga, Juan J. García-Peñas, Patricia Fuentes, Salvador Ibáñez-Micó, Laura Cuesta, Ramón Cancho, Patricia Andreo-Lillo, Gema Gutiérrez-Aguilar, Olga Alonso-Luengo, Ignacio Málaga, Antonio Hedrera-Fernández, Àngels García-Cazorla, David Soto, Mireia Olivella, Xavier Altafaj
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Molecular Sciences
Subjects:
GRIN-related disorders
glutamatergic neurotransmission
NMDA receptors
neurodevelopmental disorders
Online Access:https://www.mdpi.com/1422-0067/22/23/12656

Internet

https://www.mdpi.com/1422-0067/22/23/12656

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