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
A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease.
Yam M et al.
Brain : a Journal of Neurology, 2026
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
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy.
Teoh J et al.
Brain : a Journal of Neurology, 2025
NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models.
Tumdam R et al.
International Journal of Molecular Sciences, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Specific pathogenic mutations in the M3 domain of the GluN1 subunit regulate the surface delivery and pharmacological sensitivity of NMDA receptors.
Kolcheva M et al.
Neuropharmacology, 2021
Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A).
Rabinski T et al.
Stem Cell Research, 2021
Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report.
Jiao J et al.
Bmc Pediatrics, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers.
Helbig I et al.
Neuropharmacology, 2020
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
XiangWei W et al.
Brain : a Journal of Neurology, 2019
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
Tsuchida N et al.
Clinical Genetics, 2018
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
De Novo Mutations and Rare Variants Occurring in NMDA Receptors.
XiangWei W et al.
Current Opinion in Physiology, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disorders.
Pérez-Palma E et al.
Neurology. Genetics, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li D et al.
American Journal of Human Genetics, 2016