Article

Modeling and treating <i>GRIN2A</i> developmental and epileptic encephalopathy in mice

2019-08-16

Abstract excerpt

<h4>ABSTRACT</h4> NMDA receptors (NMDAR) play crucial roles in excitatory synaptic transmission. Rare variants of GRIN2A , which encodes the GluN2A NMDAR subunit, are associated with several intractable neurodevelopmental disorders, including developmental and epileptic encephalopathy (DEE). A de novo missense variant, p.Ser644Gly (c.1930A>G), was identified in a child with DEE, and Grin2a knockin mice were ge...

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Literature Corpus work: 0e0b6b5f-d8b4-53e0-91f9-852f691009a0
DOI: 10.1101/737239

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