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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: li bm. 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
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. Among authors: li bm. 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
Variants in BSN gene associated with epilepsy with favourable outcome.
Ye T, Zhang J, Wang J, Lan S, Zeng T, Wang H, He X, Li BM, Deng W, Liao WP, Liu XR. Ye T, et al. Among authors: li bm. J Med Genet. 2023 Aug;60(8):776-783. doi: 10.1136/jmg-2022-108865. Epub 2022 Dec 12. J Med Genet. 2023. PMID: 36600631 Free PMC article.
UNC13B variants associated with partial epilepsy with favourable outcome.
Wang J, Qiao JD, Liu XR, Liu DT, Chen YH, Wu Y, Sun Y, Yu J, Ren RN, Mei Z, Liu YX, Shi YW, Jiang M, Lin SM, He N, Li B, Bian WJ, Li BM, Yi YH, Su T, Liu HK, Gu WY, Liao WP. Wang J, et al. Among authors: li bm, li b. Brain. 2021 Nov 29;144(10):3050-3060. doi: 10.1093/brain/awab164. Brain. 2021. PMID: 33876820 Free PMC article.
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. Among authors: li bm. 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.
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
Liu XR, Xu XX, Lin SM, Fan CY, Ye TT, Tang B, Shi YW, Su T, Li BM, Yi YH, Luo JH, Liao WP. Liu XR, et al. Among authors: li bm. Front Mol Neurosci. 2021 Oct 14;14:720984. doi: 10.3389/fnmol.2021.720984. eCollection 2021. Front Mol Neurosci. 2021. PMID: 34720871 Free PMC article.
258 results