Associated Papers
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.
Lemke JR et al.
Molecular Psychiatry, 2026
41087560 (PubMed )
Supplement: 41380_2025_3279_MOESM2_ESM.xlsx › final
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.
Ngoh A et al.
Annals of Neurology, 2025
Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.
Netolicky J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L et al.
Human Molecular Genetics, 2025
39535073 (PubMed )
Supplement: supplemental_table_s6_final_ddae156.xlsx › Supporting_parameter_for_a_CALL
Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.
Zhang L et al.
Epilepsia Open, 2024
39474911 (PubMed )
Supplement: EPI4-9-2306-s002.xlsx › Sheet1
Proteogenomic characterization of skull-base chordoma.
Zhang Q et al.
Nature Communications, 2024
39333076 (PubMed )
Supplement: 41467_2024_52285_MOESM5_ESM.xlsx › Supplementary_Data_2A
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Camp CR et al.
Communications Biology, 2023
37723282 (PubMed )
Supplement: 42003_2023_5298_MOESM1_ESM.pdf
Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A.
Elmasri M et al.
Communications Biology, 2022
N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.
Charron JG et al.
American Journal of Medical Genetics. Part A, 2022
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
Liu XR et al.
Frontiers in Molecular Neuroscience, 2021
34720871 (PubMed )
Supplement: Table_3.docx
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V et al.
Brain : a Journal of Neurology, 2019
30544257 (PubMed )
Supplement: awy304_supp.zip › awy304-suppl_data › brain-2018-01122-File012.xlsx › Tabelle1
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Ligand-binding residues integrate affinity and efficacy in the NMDA receptor.
Kalbaugh TL et al.
Molecular Pharmacology, 2004
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