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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...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Rui-Na Huang, Si-Yuan Luo, Tao Huang, Xiong-Sheng Li, Fan-Chao Zhou, Wei-Hao Yin, Ze-Ru Chen, Shi-Zhan Yuan, Ling-Ying Li, Bin Tang, Jing-Da Qiao
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Elsevier 2025-08-01
Rangatū:Neurobiology of Disease
Ngā marau:
Urunga tuihono:http://www.sciencedirect.com/science/article/pii/S0969996125001718
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