Last Updated: 09/26/2026
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Found 8 publications
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Journal: Cellular and molecular life sciences : CMLS
Published: May 23, 2023
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Journal: Journal of human genetics
Published: November 03, 2016
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
Journal: Molecular pharmacology
Published: October 09, 2016
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Journal: American journal of human genetics
Published: August 20, 2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Journal: American journal of human genetics
Published: April 30, 2016
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Journal: Annals of clinical and translational neurology
Published: May 20, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026