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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: liu xl, liu q, liu xr, liu zg. Mov Disord. 2020 Aug;35(8):1428-1437. doi: 10.1002/mds.28061. Epub 2020 May 11. Mov Disord. 2020. PMID: 32392383
Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q, Niu Q, Wang J, Wang Z, Yin Y, Tian J, Tian S, Bi H, Jiang H, Liu X, Lü Y, Sun M, Wu J, Xu E, Chen T, Chen T, Chen X, Li W, Li S, Li Q, Song X, Tang Y, Yang P, Yang Y, Zhang M, Zhang X, Zhang Y, Zhang R, Ouyang Y, Yu J, Hu Q, Ke Q, Yao Y, Zhao Z, Zhao X, Zhao G, Liang F, Cheng N, Han J, Peng R, Chen S, Tang B. Cao L, et al. Transl Neurodegener. 2021 Feb 16;10(1):7. doi: 10.1186/s40035-021-00231-8. Transl Neurodegener. 2021. PMID: 33588936 Free PMC article. Review.
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: liu tt, liu z, liu xl, liu sh, liu q, liu xr, liu zh. Mov Disord. 2022 Mar;37(3):545-552. doi: 10.1002/mds.28865. Epub 2021 Nov 24. Mov Disord. 2022. PMID: 34820915
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
He N, Guan BZ, Wang J, Liu HK, Mao Y, Liu ZG, Yin F, Peng J, Xiao B, Tang BS, Zhou D, Huang G, Dai QL, Zeng Y, Han H, Zhai QX, Li B, Tang B, Li WB, Song W, Liu L, Shi YW, Li BM, Su T, Zhou P, Liu XR, Guo LW, Yi YH, Liao WP. He N, et al. Among authors: liu hk, liu l, liu xr, liu zg. Clin Transl Med. 2023 Jun;13(6):e1289. doi: 10.1002/ctm2.1289. Clin Transl Med. 2023. PMID: 37264743 Free PMC article.
Milder phenotype with SCN1A truncation mutation other than SMEI.
Yu MJ, Shi YW, Gao MM, Deng WY, Liu XR, Chen L, Long YS, Yi YH, Liao WP. Yu MJ, et al. Among authors: liu xr. Seizure. 2010 Sep;19(7):443-5. doi: 10.1016/j.seizure.2010.06.010. Epub 2010 Jul 14. Seizure. 2010. PMID: 20630778 Free article.
484 results