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Article

Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy.

Annals of clinical and translational neurology - 1 Jul 2021

Xu Yuchen, Song Rui, Chen Wenjuan, Strong Katie, Shrey Daniel, Gedela Satyanarayana, Traynelis Stephen F, Zhang Guojun, Yuan Hongjie

Abstract excerpt

OBJECTIVE: Genetic variants in the GRIN genes that encode N-methyl-D-aspartate receptor (NMDAR) subunits have been identified in various neurodevelopmental disorders, including epilepsy. We identified a GRIN1 variant from an individual with early-onset epileptic encephalopathy, evaluated functional changes to NMDAR properties caused by the variant, and screened FDA-approved therapeutic compounds as potential...

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Identifiers

PMID: 34227748
DOI: 10.1002/acn3.51406
PMCID: PMC8283169

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