Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Rela...
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
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Author / Creator
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 and Altafaj, Xavier
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 growing number of functional studies indicate that GRIN...
Alternative Titles
Full title
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8657601
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8657601
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms222312656
