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
Differential responses of disease-related GRIN variants located in pore-forming M2 domain of N-methyl-D-aspartate receptor to FDA-approved inhibitors.
Song R et al.
Journal of Neurochemistry, 2024
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
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
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Camp CR et al.
Communications Biology, 2023
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Myers SJ et al.
Human Molecular Genetics, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 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
Enhancing GluN2A-type NMDA receptors impairs long-term synaptic plasticity and learning and memory.
Li QQ et al.
Molecular Psychiatry, 2022
Opportunities for Precision Treatment of GRIN2A and GRIN2B Gain-of-Function Variants in Triheteromeric N-Methyl-D-Aspartate Receptors.
Han W et al.
The Journal of Pharmacology and Experimental Therapeutics, 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
Voltage-independent GluN2A-type NMDA receptor Ca2+ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice.
Bertocchi I et al.
Communications Biology, 2021
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
Liu XR et al.
Frontiers in Molecular Neuroscience, 2021
Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.
Gale JR et al.
Frontiers in Pharmacology, 2021
An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking.
Mota Vieira M et al.
Cell Reports, 2020
Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif.
Perszyk RE et al.
The Journal of Physiology, 2020
Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.
Amador A et al.
Brain : a Journal of Neurology, 2020
Effects of GluN2A and GluN2B gain-of-function epilepsy mutations on synaptic currents mediated by diheteromeric and triheteromeric NMDA receptors.
Chen X et al.
Neurobiology of Disease, 2020
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Li J et al.
Human Mutation, 2019
The human NMDA receptor GluN2AN615K variant influences channel blocker potency.
Marwick KFM et al.
Pharmacology Research & Perspectives, 2019
Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy.
Marwick KFM et al.
The Journal of Physiology, 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
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
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
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
Management of genetic epilepsies: From empirical treatment to precision medicine.
Striano P et al.
Pharmacological Research, 2016
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Allen NM et al.
Epilepsia, 2016
Advancing epilepsy genetics in the genomic era.
Myers CT et al.
Genome Medicine, 2015
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
Effect of a GRIN2A de novo mutation associated with epilepsy and intellectual disability on NMDA receptor currents and Mg(2+) block in cultured primary cortical neurons.
Marwick K et al.
Lancet (london, England), 2015
Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.
Prickett TD et al.
The Journal of Investigative Dermatology, 2014
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Pierson TM et al.
Annals of Clinical and Translational Neurology, 2014
Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability.
Metzler M
Clinical Genetics, 2011
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S et al.
Nature Genetics, 2010