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Investigation of FRMPD4 variants associated with X-linked epilepsy.
Li RK, Li H, Tian MQ, Li Y, Luo S, Liang XY, Liu WH, Li BM, Shi XQ, Li J, Li B, Shu XM; China Epilepsy Gene 1.0 Project. Li RK, et al. Among authors: liang xy. Seizure. 2024 Mar;116:45-50. doi: 10.1016/j.seizure.2023.05.014. Epub 2023 Jun 10. Seizure. 2024. PMID: 37330374
Epilepsy-associated genes: an update.
Zhang MW, Liang XY, Wang J, Gao LD, Liao HJ, He YH, Yi YH, He N, Liao WP; China Epilepsy Gene 1.0 Project. Zhang MW, et al. Among authors: liang xy. Seizure. 2024 Mar;116:4-13. doi: 10.1016/j.seizure.2023.09.021. Epub 2023 Sep 23. Seizure. 2024. PMID: 37777370
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
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. 2025 Jan 2;112(1):87-105. doi: 10.1016/j.ajhg.2024.11.010. Epub 2024 Dec 20. Am J Hum Genet. 2025. PMID: 39708813
343 results