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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...
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| Publicado no: | Mov Disord |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | 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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