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A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy
Cerebral metabolism is primarily dependent on glucose for which a facilitated diffusion by glucose transporter protein 1 (GLUT1) across the blood-brain barrier is crucial. This GLUT1 is encoded by the SLC2A1 gene. Mutations in SLC2A1 will lead to a variety of symptoms known as GLUT1 deficiency syndr...
Shranjeno v:
| izdano v: | J Epilepsy Res |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Korean Epilepsy Society
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7494885/ https://ncbi.nlm.nih.gov/pubmed/32983954 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14581/jer.20007 |
| Oznake: |
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