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A novel missense mutation in GRIN2A causes a non-epileptic neurodevelopmental disorder

BACKGROUND: Mutations in the GRIN2A gene, which encodes the GluN2A 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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mov Disord
Päätekijät: Fernández-Marmiesse, Ana, Kusumoto, Hirofumi, Rekarte, Saray, Roca, Iria, Zhang, Jin, Myers, Scott J., Traynelis, Stephen F., Couce, Ma Luz, Gutierrez-Solana, Luis, Yuan, Hongjie
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6105539/
https://ncbi.nlm.nih.gov/pubmed/29644724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.27315
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