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
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
34212862 (PubMed )
Supplement: elife-67555-supp2.xlsx › ClinVar_-_filtered
A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.
Amin JB et al.
Nature Communications, 2018
30217972 (PubMed )
Supplement: 41467_2018_6145_MOESM1_ESM.pdf
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 2017
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