Associated Papers
Personalized care of paediatric drug-resistant epilepsy in Africa: A single-centre pilot study utilizing mobile health and genetic testing.
Olivier IS et al.
Developmental Medicine and Child Neurology, 2026
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
Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.
Netolicky J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis.
Jauss RT et al.
International Journal of Molecular Sciences, 2025
Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.
Zhang L et al.
Epilepsia Open, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S et al.
Annals of Neurology, 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
Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.
Kellner S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants.
Thompson-Lake DGY et al.
Neurology. Genetics, 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
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Camp CR et al.
Communications Biology, 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
N-methyl-D-aspartate receptor hypofunction as a potential contributor to the progression and manifestation of many neurological disorders.
Dong B et al.
Frontiers in Molecular Neuroscience, 2023
Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A.
Elmasri M et al.
Communications Biology, 2022
Protein quality control of N-methyl-D-aspartate receptors.
Benske TM et al.
Frontiers in Cellular Neuroscience, 2022
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
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
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
Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci TB et al.
Clinical Genetics, 2017
Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.
Addis L et al.
Scientific Reports, 2017
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
Gao K et al.
Plos One, 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
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA et al.
Clinical Genetics, 2015
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
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
Zhang Y et al.
Plos One, 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