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
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 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
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
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y et al.
Cellular and Molecular Life Sciences : Cmls, 2024
An integrated approach to evaluate the functional effects of disease-associated NMDA receptor variants.
Moody G et al.
Neuropharmacology, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Camp CR et al.
Communications Biology, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E et al.
Cells, 2023
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
Three-dimensional missense tolerance ratio analysis.
Perszyk RE et al.
Genome Research, 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
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
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Li J et al.
Human Mutation, 2019
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V et al.
Brain : a Journal of Neurology, 2019
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS et al.
Molecular Syndromology, 2016