Article

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

2020-08-06

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. We have examined the cell-autonomous effect of five GluN2A mutations, 3 l...

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Literature Corpus work: ab928d5f-cc22-54c1-855d-9b6f085060da
DOI: 10.1101/2020.08.06.240010

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