Associated Papers
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
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M et al.
Physiological Research, 2024
Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.
Shepard N et al.
Scientific Reports, 2024
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.
Liu D et al.
Nature Genetics, 2023
36914870 (PubMed )
Supplement: 41588_2023_1305_MOESM4_ESM.xlsx › Supplementary_Table_8
An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking.
Mota Vieira M et al.
Cell Reports, 2020
32877683 (PubMed )
Supplement: NIHMS1627855-supplement-2.xlsx › GRIN2A_variants
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
Functional assessment of the NMDA receptor variant GluN2A R586K.
Marwick KFM et al.
Wellcome Open Research, 2017
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
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