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Article

Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A.

Communications biology - 28 Feb 2022

Elmasri Marwa, Hunter Daniel William, Winchester Giles, Bates Ella Emine, Aziz Wajeeha, Van Der Does Does Moolenaar, Karachaliou Eirini, Sakimura Kenji, Penn Andrew Charles

Abstract excerpt

Dominant mutations in the human gene GRIN2A, encoding NMDA receptor (NMDAR) subunit GluN2A, make a significant and growing contribution to the catalogue of published single-gene epilepsies. Understanding the disease mechanism in these epilepsy patients is complicated by the surprising diversity of effects that the mutations have on NMDARs. Here we have examined the cell-autonomous effect of five GluN2A mutations,...

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Identifiers

PMID: 35228668
DOI: 10.1038/s42003-022-03115-3
PMCID: PMC8885697

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