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Article

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

11 Apr 2018

Abstract excerpt

BACKGROUND: Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon-1) subunit of the N-methyl-d-aspartate receptor, have been identified in patients with epilepsy-aphasia spectrum disorders, idiopathic focal epilepsies with centrotemporal spikes, and epileptic encephalopathies with severe developmental delay. However, thus far, mutations in this gene have not been...

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PMID: 29644724
DOI: 10.1002/mds.27315

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