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
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.
Netolicky J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
L-serine treatment in a patient with refractory epilepsy due to a GRIN2A missense mutation.
Shin HJ et al.
Acta Neurologica Belgica, 2024
Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.
Zhang L et al.
Epilepsia Open, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S et al.
Annals of Neurology, 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
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
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C et al.
Nature Genetics, 2023
Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A.
Elmasri M et al.
Communications Biology, 2022
Protein quality control of N-methyl-D-aspartate receptors.
Benske TM et al.
Frontiers in Cellular Neuroscience, 2022
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A et al.
Genes, 2021
Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.
Gong P et al.
Frontiers in Genetics, 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
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
Li X et al.
Frontiers in Pediatrics, 2020
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V et al.
Brain : a Journal of Neurology, 2019
Mutations of N-Methyl-D-Aspartate Receptor Subunits in 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
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
New genes for focal epilepsies with speech and language disorders.
Turner SJ et al.
Current Neurology and Neuroscience Reports, 2015
NMDA receptor subunit mutations in neurodevelopmental disorders.
Burnashev N et al.
Current Opinion in Pharmacology, 2015
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill GL et al.
Nature Genetics, 2013