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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: liang xy. 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
CCDC22 variants caused X-linked focal epilepsy and focal cortical dysplasia.
He YL, Ye YC, Wang PY, Liang XY, Gu YJ, Zhang SQ, Han DQ, Chi Q, Liu WH, Zhou P, Zhai QX, Li BM, Yi YH, Luo S, Meng H; China Epilepsy Gene 1.0 Project. He YL, et al. Among authors: liang xy. Seizure. 2024 Dec;123:1-8. doi: 10.1016/j.seizure.2024.10.007. Epub 2024 Oct 12. Seizure. 2024. PMID: 39426154
343 results