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Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.
Luo S, Wang PY, Zhou P, Zhang WJ, Gu YJ, Liang XY, Zhang JW, Luo JX, Zhang HW, Lan S, Zhang TT, Yang JH, Sun SZ, Guo XY, Wang JL, Deng LF, Xu ZH, Jin L, He YY, Ye ZL, Gu WY, Li BM, Shi YW, Liu XR, Yan HJ, Yi YH, Jiang YW, Mao X, Li WL, Meng H, Liao WP. Luo S, et al. Among authors: liao wp. Am J Hum Genet. 2024 Dec 17:S0002-9297(24)00419-1. doi: 10.1016/j.ajhg.2024.11.010. Online ahead of print. Am J Hum Genet. 2024. PMID: 39708813
ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy.
Hu YY, Song W, Liu ZG, Ye XG, Zhang HW, Li X, Luo JX, Wang PY, Wang J, Lin XF, Zhu HL, Liao WP, Li B, Chen XQ. Hu YY, et al. Among authors: liao wp. World J Pediatr. 2024 Aug;20(8):859-867. doi: 10.1007/s12519-024-00830-1. Epub 2024 Jul 26. World J Pediatr. 2024. PMID: 39060771 No abstract available.
Heterozygous variants in USP25 cause genetic generalized epilepsy.
Fan CX, Liu XR, Mei DQ, Li BM, Li WB, Xie HC, Wang J, Shen NX, Ye ZL, You QL, Li LY, Qu XC, Chen LZ, Liang JJ, Zhang MR, He N, Li J, Gao JY, Deng WY, Liu WZ, Wang WT, Liao WP, Chen Q, Shi YW. Fan CX, et al. Among authors: liao wp. Brain. 2024 Oct 3;147(10):3442-3457. doi: 10.1093/brain/awae191. Brain. 2024. PMID: 38875478
131 results