ArticleThe Journal of physiology2019
Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy.
Article in The Journal of physiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Disease spectrum of nonconvulsive status epilepticus in children: A study based on clinical subtype characteristics and prognostic stratification.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Neurodevelopmental disorder due to a frameshift mutation in theTranslational pediatrics · 2025Article
- Absence of GluN2A in hippocampal CA1 neurons leads to altered dendritic structure and reduced frequency of miniature excitatory synaptic events.Brain communications · 2025Article
- Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.Physiological research · 2024Review
- Transfection in Primary Cultured Neuronal Cells.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Selective Cell-Surface Expression of Triheteromeric NMDA Receptors.Methods in molecular biology (Clifton, N.J.) · 2024Article
- An integrated approach to evaluate the functional effects of disease-associated NMDA receptor variants.Neuropharmacology · 2023Article
- KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility.Cell death and differentiation · 2023Article
- Correlation of serum Orexin-A level with cognitive function and serum inflammatory cytokines in epileptic patients.American journal of translational research · 2023Article
- Complex functional phenotypes of NMDA receptor disease variants.Molecular psychiatry · 2022Article
- Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.Pharmacological reviews · 2021Review
- Roles of N-Methyl-D-Aspartate Receptors (NMDARs) in Epilepsy.Frontiers in molecular neuroscience · 2021Review
- Article
- From bedside-to-bench: What disease-associated variants are teaching us about the NMDA receptor.The Journal of physiology · 2021Review
- Targeting Ionotropic Glutamate Receptors in the Treatment of Epilepsy.Current neuropharmacology · 2021Review
- Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif.The Journal of physiology · 2020Article
- De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.Human mutation · 2019Article
- The human NMDA receptor GluN2APharmacology research & perspectives · 2019Article
- Distinct roles ofF1000Research · 2019Review
- Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
Abstract
key pointsNMDA receptors are neurotransmitter-gated ion channels that are critically involved in brain cell communication Variations in genes encoding NMDA receptor subunits have been found in a range of neurodevelopmental disorders. We investigated a de novo genetic variant found in patients with epileptic encephalopathy that changes a residue located in the ion channel pore of the GluN2A NMDA receptor subunit. We found that this variant (GluN2A ABSTRACT: NMDA receptors are ionotropic calcium-permeable glutamate receptors with a voltage-dependence mediated by blockade by Mg
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.