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
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
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
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Lewis SA et al.
Orphanet Journal of Rare Diseases, 2023
The pathogenic N650K variant in the GluN1 subunit regulates the trafficking, conductance, and pharmacological properties of NMDA receptors.
Kolcheva M et al.
Neuropharmacology, 2023
Protein quality control of N-methyl-D-aspartate receptors.
Benske TM et al.
Frontiers in Cellular Neuroscience, 2022
Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs.
Benke TA et al.
Neuropharmacology, 2021
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy.
Xu Y et al.
Annals of Clinical and Translational Neurology, 2021
Specific pathogenic mutations in the M3 domain of the GluN1 subunit regulate the surface delivery and pharmacological sensitivity of NMDA receptors.
Kolcheva M et al.
Neuropharmacology, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study.
Pironti E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE et al.
Brain : a Journal of Neurology, 2018
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Chen W et al.
Journal of Human Genetics, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
Rossi M et al.
European Journal of Human Genetics : Ejhg, 2017
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
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR et al.
Neurology, 2016
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Ohba C et al.
Epilepsia, 2015
GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.
Chen W et al.
Pediatric Neurology Briefs, 2015