Associated Papers
GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.
Obregón Gómez LR et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 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
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
Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.
Shah AA et al.
Genes, 2022
Identification of homologous GluN subunits variants accelerates GRIN variants stratification.
Santos-Gómez A et al.
Frontiers in Cellular Neuroscience, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 2017
Human GRIN2B variants in neurodevelopmental disorders.
Hu C et al.
Journal of Pharmacological Sciences, 2016