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...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Elsevier
2025-08-01
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| Rangatū: | Neurobiology of Disease |
| Ngā marau: | |
| Urunga tuihono: | http://www.sciencedirect.com/science/article/pii/S0969996125001718 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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