Associated Papers
Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency.
Karnstedt M et al.
Epilepsia, 2026
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
Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis.
Jauss RT et al.
International Journal of Molecular Sciences, 2025
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L et al.
Human Molecular Genetics, 2025
Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.
Ebrahim AK et al.
Case Reports in Pediatrics, 2025
Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.
Zhang L et al.
Epilepsia Open, 2024
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M et al.
Physiological Research, 2024
Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.
Kellner S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.
Shepard N et al.
Scientific Reports, 2024
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Camp CR et al.
Communications Biology, 2023
The pathogenic N650K variant in the GluN1 subunit regulates the trafficking, conductance, and pharmacological properties of NMDA receptors.
Kolcheva M et al.
Neuropharmacology, 2023
GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.
Samanta D
Epilepsy Research, 2023
How can we obtain truly translational mouse models to improve clinical outcomes in schizophrenia?
Clapcote SJ
Disease Models & Mechanisms, 2022
Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A.
Elmasri M et al.
Communications Biology, 2022
Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs.
Benke TA et al.
Neuropharmacology, 2021
Three-dimensional missense tolerance ratio analysis.
Perszyk RE et al.
Genome Research, 2021
Specific pathogenic mutations in the M3 domain of the GluN1 subunit regulate the surface delivery and pharmacological sensitivity of NMDA receptors.
Kolcheva M et al.
Neuropharmacology, 2021
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
Liu XR et al.
Frontiers in Molecular Neuroscience, 2021
An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking.
Mota Vieira M et al.
Cell Reports, 2020
Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.
Amador A et al.
Brain : a Journal of Neurology, 2020
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V et al.
Brain : a Journal of Neurology, 2019
Distinct roles of GRIN2A and GRIN2B variants in neurological conditions.
Myers SJ et al.
F1000research, 2019
A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.
Amin JB et al.
Nature Communications, 2018
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
De Novo Mutations and Rare Variants Occurring in NMDA Receptors.
XiangWei W et al.
Current Opinion in Physiology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
Chen W et al.
Molecular Pharmacology, 2017
Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment.
Symonds JD et al.
Current Opinion in Neurology, 2017
Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.
Addis L et al.
Scientific Reports, 2017
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
Ogden KK et al.
Plos Genetics, 2017
Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.
Sibarov DA et al.
Frontiers in Cellular Neuroscience, 2017
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Swanger SA et al.
American Journal of Human Genetics, 2016