Ontology highlight
ABSTRACT:
SUBMITTER: Fernandez-Marmiesse A
PROVIDER: S-EPMC6105539 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Fernández-Marmiesse Ana A Kusumoto Hirofumi H Rekarte Saray S Roca Iria I Zhang Jin J Myers Scott J SJ Traynelis Stephen F SF Couce Mª Luz ML Gutierrez-Solana Luis L Yuan Hongjie H
Movement disorders : official journal of the Movement Disorder Society 20180411 6
<h4>Background</h4>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 associated with a nonepileptic neurodevelopmental disorder with dystonia.<h4>Object ...[more]