Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice
Abstract
NMDA receptors play crucial roles in excitatory synaptic transmission. Rare variants in GRIN2A encoding the GluN2A subunit are associated with a spectrum of disorders, ranging from mild speech and language delay to intractable neurodevelopmental disorders, including but not limited to developmental and epileptic encephalopathy. A de novo missense variant, p.Ser644Gly, was identified in a child with this disorder, and Grin2a knock-in mice were...
Paper Details
Title
Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice
Published Date
Jun 24, 2020
Journal
Volume
143
Issue
7
Pages
2039 - 2057
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