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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. Seizure. 2024 Mar;116:4-13. doi: 10.1016/j.seizure.2023.09.021. Epub 2023 Sep 23. Seizure. 2024. PMID: 37777370
BCOR variants are associated with X-linked recessive partial epilepsy.
Li X, Bian WJ, Liu XR, Wang J, Luo S, Li BM, Yi YH, Wu QY, Zhai QX, Gao LD, Zhang HF, He N, Liao WP; China Epilepsy Gene 1.0 Project. Li X, et al. Epilepsy Res. 2022 Nov;187:107036. doi: 10.1016/j.eplepsyres.2022.107036. Epub 2022 Oct 19. Epilepsy Res. 2022. PMID: 36279688
CELSR1 variants are associated with partial epilepsy of childhood.
Chen Z, Luo S, Liu ZG, Deng YC, He SL, Liu XR, Yi YH, Wang J, Gao LD, Li BM, Wu ZJ, Ye ZL, Liang DH, Bian WJ, Liao WP; China Epilepsy Gene 1.0 Project. Chen Z, et al. Am J Med Genet B Neuropsychiatr Genet. 2022 Oct;189(7-8):247-256. doi: 10.1002/ajmg.b.32916. Epub 2022 Aug 12. Am J Med Genet B Neuropsychiatr Genet. 2022. PMID: 36453712
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. Seizure. 2024 Mar;116:45-50. doi: 10.1016/j.seizure.2023.05.014. Epub 2023 Jun 10. Seizure. 2024. PMID: 37330374
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.
Liu XR, Ye TT, Zhang WJ, Guo X, Wang J, Huang SP, Xie LS, Song XW, Deng WW, Li BM, He N, Wu QY, Zhuang MZ, Xu M, Shi YW, Su T, Yi YH, Liao WP; China Epilepsy Gene 1.0 Project. Liu XR, et al. CNS Neurosci Ther. 2021 Oct;27(10):1146-1156. doi: 10.1111/cns.13692. Epub 2021 Jun 9. CNS Neurosci Ther. 2021. PMID: 34109749 Free PMC article.