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Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy
The N-methyl-d-aspartate receptor (NMDAR), a ligand-gated ionotropic glutamate receptor, plays important roles in normal brain development and a wide range of neurologic disorders, including epilepsy. Here, we evaluate for the first time the functional properties of a de novo GRIN2A missense mutatio...
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| Veröffentlicht in: | Mol Pharmacol |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The American Society for Pharmacology and Experimental Therapeutics
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5363715/ https://ncbi.nlm.nih.gov/pubmed/28126851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1124/mol.116.106781 |
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