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
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
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
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
Human GRIN2B variants in neurodevelopmental disorders.
Hu C et al.
Journal of Pharmacological Sciences, 2016
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
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