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Article

Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs.

Neuropharmacology - 1 Nov 2021

Benke Tim A, Park Kristen, Krey Ilona, Camp Chad R, Song Rui, Ramsey Amy J, Yuan Hongjie, Traynelis Stephen F, Lemke Johannes

Abstract excerpt

Considerable genetic variation of N-methyl-d-aspartate receptors (NMDARs) has recently become apparent, with many hundreds of de novo variants identified through widely available clinical genetic testing. Individuals with GRIN variants present with neurological conditions such as epilepsy, autism, intellectual disability (ID), movement disorders, schizophrenia and behavioral disorders. Determination of the...

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Identifiers

PMID: 34560056
DOI: 10.1016/j.neuropharm.2021.108805
PMCID: PMC8525401

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