Associated Papers
A GluN2B disease-associated variant promotes the degradation of NMDA receptors via autophagy.
Benske TM et al.
The Journal of Biological Chemistry, 2026
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
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
Inhibition of GluN2B-containing N-methyl-d-aspartate receptors by radiprodil.
Banke TG et al.
Brain : a Journal of Neurology, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Autism spectrum disorder and various mechanisms behind it.
Rajabi P et al.
Pharmacology, Biochemistry, and Behavior, 2024
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 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
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.
Shah AA et al.
Genes, 2022
Synaptic Dysfunction by Mutations in GRIN2B: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification.
Elmasri M et al.
Brain Sciences, 2022
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.
Krey I et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022
Protein quality control of N-methyl-D-aspartate receptors.
Benske TM et al.
Frontiers in Cellular Neuroscience, 2022
GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms.
Sabo SL et al.
Frontiers in Synaptic Neuroscience, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Three-dimensional missense tolerance ratio analysis.
Perszyk RE et al.
Genome Research, 2021
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
The Extracellular Domains of GluN Subunits Play an Essential Role in Processing NMDA Receptors in the ER.
Horak M et al.
Frontiers in Neuroscience, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich A et al.
Molecular Autism, 2019
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 2017
Corrigendum to "Human GRIN2B variants in neurodevelopmental disorders" [J Pharmacol Sci 132 (2) 115-121].
Hu C et al.
Journal of Pharmacological Sciences, 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
Human GRIN2B variants in neurodevelopmental disorders.
Hu C et al.
Journal of Pharmacological Sciences, 2016