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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: yin f. 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: yin f. Hum Mol Genet. 2018 Feb 15;27(4):757-758. doi: 10.1093/hmg/ddy025. Hum Mol Genet. 2018. PMID: 29351621 No abstract available.
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: yin xm. 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
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Huang XJ, Wang SG, Guo XN, Tian WT, Zhan FX, Zhu ZY, Yin XM, Liu Q, Yin KL, Liu XR, Zhang Y, Liu ZG, Liu XL, Zheng L, Wang T, Wu L, Rong TY, Wang Y, Zhang M, Bi GH, Tang WG, Zhang C, Zhong P, Wang CY, Tang JG, Lu W, Zhang RX, Zhao GH, Li XH, Li H, Chen T, Li HY, Luo XG, Song YY, Tang HD, Luan XH, Zhou HY, Tang BS, Chen SD, Cao L. Huang XJ, et al. Among authors: yin xm, yin kl. Mov Disord. 2020 Aug;35(8):1428-1437. doi: 10.1002/mds.28061. Epub 2020 May 11. Mov Disord. 2020. PMID: 32392383
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.
Tian WT, Zhan FX, Liu ZH, Liu Z, Liu Q, Guo XN, Zhou ZW, Wang SG, Liu XR, Jiang H, Li XH, Zhao GH, Li HY, Tang JG, Bi GH, Zhong P, Yin XM, Liu TT, Ni RL, Zheng HR, Liu XL, Qian XH, Wu JY, Cao YW, Zhang C, Liu SH, Wu YY, Wang QF, Xu T, Hou WZ, Li ZY, Ke HY, Zhu ZY, Zheng L, Wang T, Rong TY, Wu L, Zhang Y, Fang K, Wang ZH, Zhang YK, Zhang M, Zhao YW, Tang BS, Luan XH, Huang XJ, Cao L. Tian WT, et al. Among authors: yin xm. Mov Disord. 2022 Mar;37(3):545-552. doi: 10.1002/mds.28865. Epub 2021 Nov 24. Mov Disord. 2022. PMID: 34820915
346 results