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
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders.
Cha JH et al.
Npj Genomic Medicine, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K et al.
Scientific Reports, 2024
NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models.
Tumdam R et al.
International Journal of Molecular Sciences, 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
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
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N et al.
Brain : a Journal of Neurology, 2024
Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat.
Córdova-Fletes C et al.
Cytogenetic and Genome Research, 2024
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
Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.
Wang X et al.
Neuroscience, 2023
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
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
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 2017
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
Ogden KK et al.
Plos Genetics, 2017
Human GRIN2B variants in neurodevelopmental disorders.
Hu C et al.
Journal of Pharmacological Sciences, 2016