Associated Papers
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
41146259 (PubMed )
Supplement: 13023_2025_4055_MOESM1_ESM.xlsx › Supplementary_table1
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Scorrano G et al.
International Journal of Molecular Sciences, 2024
GRIN database: A unified and manually curated repertoire of GRIN variants.
García-Recio A et al.
Human Mutation, 2021
An autism-associated mutation in GluN2B prevents NMDA receptor trafficking and interferes with dendrite growth.
Sceniak MP et al.
Journal of Cell Science, 2019
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
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S et al.
Nature Genetics, 2010
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