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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS. Zeng S, et al. Among authors: li n, li jc. J Med Genet. 2019 Apr;56(4):265-270. doi: 10.1136/jmedgenet-2018-105484. Epub 2018 Sep 7. J Med Genet. 2019. PMID: 30194086
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS. Wang JL, et al. Among authors: li xh, li n, li jd. Brain. 2011 Dec;134(Pt 12):3493-3501. doi: 10.1093/brain/awr289. Epub 2011 Nov 26. Brain. 2011. PMID: 22120146 Free PMC article.
[PRRT2 gene-related paroxysmal disorders].
Li J, Mao X, Wang J, Li N, Tang B. Li J, et al. Among authors: li n. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):595-9. doi: 10.3760/cma.j.issn.1003-9406.2014.01.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25297589 Review. Chinese.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Yin XM, Lin JH, Cao L, Zhang TM, Zeng S, Zhang KL, Tian WT, Hu ZM, Li N, Wang JL, Guo JF, Wang RX, Xia K, Zhang ZH, Yin F, Peng J, Liao WP, Yi YH, Liu JY, Yang ZX, Chen Z, Mao X, Yan XX, Jiang H, Shen L, Chen SD, Zhang LM, Tang BS. Yin XM, et al. Among authors: li n. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430. Hum Mol Genet. 2018. PMID: 29294000
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Yin XM, Lin JH, Cao L, Zhang TM, Zeng S, Zhang KL, Tian WT, Hu ZM, Li N, Wang JL, Guo JF, Wang RX, Xia K, Zhang ZH, Yin F, Peng J, Liao WP, Yi YH, Liu JY, Yang ZX, Chen Z, Mao X, Yan XX, Jiang H, Shen L, Chen SD, Zhang LM, Tang BS. Yin XM, et al. Among authors: li n. Hum Mol Genet. 2018 Feb 15;27(4):757-758. doi: 10.1093/hmg/ddy025. Hum Mol Genet. 2018. PMID: 29351621 No abstract available.
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