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
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
GRIN2B disease-associated mutations disrupt the function of BK channels and NMDA receptor signaling nanodomains.
Martínez-Lázaro R et al.
The Journal of General Physiology, 2025
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
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M et al.
Physiological Research, 2024
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
The pathogenic N650K variant in the GluN1 subunit regulates the trafficking, conductance, and pharmacological properties of NMDA receptors.
Kolcheva M et al.
Neuropharmacology, 2023
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N et al.
Archives of Iranian Medicine, 2022
Pregnane-based steroids are novel positive NMDA receptor modulators that may compensate for the effect of loss-of-function disease-associated GRIN mutations.
Kysilov B et al.
British Journal of Pharmacology, 2022
Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.
Shah AA et al.
Genes, 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
GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms.
Sabo SL et al.
Frontiers in Synaptic Neuroscience, 2022
Three-dimensional missense tolerance ratio analysis.
Perszyk RE et al.
Genome Research, 2021
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 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
Voltage-independent GluN2A-type NMDA receptor Ca2+ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice.
Bertocchi I et al.
Communications Biology, 2021
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
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
De Novo Mutations and Rare Variants Occurring in NMDA Receptors.
XiangWei W et al.
Current Opinion in Physiology, 2018
Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.
Fedele L et al.
Nature Communications, 2018
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.
Soto D et al.
Biological Psychiatry, 2018
Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit.
Vyklicky V et al.
Frontiers in Molecular Neuroscience, 2018
GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors.
Mullier B et al.
Neuropharmacology, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 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
Human GRIN2B variants in neurodevelopmental disorders.
Hu C et al.
Journal of Pharmacological Sciences, 2016
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.
Soto D et al.
Communicative & Integrative Biology, 2014
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke JR et al.
Annals of Neurology, 2014
Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature.
Mishra N et al.
Child Neurology Open, 0