Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review

Background: The GAP Activity Towards Rags 1 (GATOR1) complex, which includes DEPDC5, NPRL2, and NPRL3, plays a key role in epilepsy. It has been reported that focal epilepsy is associated with mutations in the NPRL3 gene in some cases. We report two rare mutations in the NPRL3 gene in two unrelated...

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Bibliografski detalji

Glavni autori:	Junji Hu, Xueping Gao, Longchang Chen, Yuling Kan, Zhaoli Du, Shuangqing Xin, Wenkai Ji, Qiang Yu, Lili Cao
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2023-01-01
Serija:	Frontiers in Genetics
Teme:	epilepsy Nprl3 familial focal epilepsy with variable foci GATOR1 mTORC1 signaling
Online pristup:	https://www.frontiersin.org/articles/10.3389/fgene.2022.1054567/full
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