The interaction of UBR4, LRP1, and OPHN1 in refractory epilepsy: Drosophila model to investigate the oligogenic effect on epilepsy
Refractory epilepsy is an intractable neurological disorder that can be associated with oligogenic/polygenic etiologies. Through trio-based whole-exome sequencing analysis, we identified a clinical case of refractory epilepsy with three candidate gene variants: UBR4, LRP1, and OPHN1. Utilizing the G...
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| Hlavní autoři: | , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2025-08-01
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| Edice: | Neurobiology of Disease |
| Témata: | |
| On-line přístup: | http://www.sciencedirect.com/science/article/pii/S0969996125001718 |
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