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
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.
Ngoh A et al.
Annals of Neurology, 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
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Camp CR et al.
Communications Biology, 2023
Three-dimensional missense tolerance ratio analysis.
Perszyk RE et al.
Genome Research, 2021
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
Liu XR et al.
Frontiers in Molecular Neuroscience, 2021
Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders.
Tang W et al.
Neuropharmacology, 2020
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
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Kessi M et al.
Bmc Genetics, 2018
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
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
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 in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Lesca G et al.
Nature Genetics, 2013