富含脯胺酸的跨膜蛋白 2 基因位點突變引起單側肢體陣發性運動誘發性運動障礙一例_Journal of Epilepsy

Authors：

董媛媛 ¹ , 崔帥 ² ,  孔慶霞 ¹

Corresponding?author：

孔慶霞, Email: 438274162@qq.com

Keywords：

DOI：

10.7507/2096-0247.20180046

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Citation： 董媛媛, 崔帥, 孔慶霞. 富含脯胺酸的跨膜蛋白 2 基因位點突變引起單側肢體陣發性運動誘發性運動障礙一例. Journal of Epilepsy, 2018, 4(3): 273-274. doi: 10.7507/2096-0247.20180046 Copy

1.	Michetti C, Corradi A. PRRT2, a network stability gene.Oncotarget, 2017, 8(34): 55770-55771.
2.	Yin XM, Lin JH, Cao L, et al. Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.Hum Mol Genet, 2018, 27(4): 625-637.
3.	Ebrahimi-Fakhari D, Saffari A, Westenberger A.The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain, 2015, 138(Pt 12): 3476-3495.
4.	Tan GH, Liu YY, Wang L, et al. PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. Cell Res, 2018, 28(1): 90-110.
5.	Kros L, De Zeeuw CI. PRRT2-dependent dyskinesia: cerebellar, paroxysmal and persistent. Cell Res, 2018, 28(1): 3-4.
6.	Méneret A, Gaudebout C, Riant F, et al. PRRT2 mutations and paroxysmal disorders.Eur J Neurol, 2013, 20(6): 872-878.
7.	Paucar M, Malmgren H.Paroxysmal kinesigenic dyskinesia.Tremor Other Hyperkinet Mov (NY), 2017, 7: 529.
8.	Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.Nat Genet, 2011, 43(12): 1252-1255.
9.	Valente P, Castroflorio E, Rossi P, et al. PRRT2 Is a key component of the Ca²⁺-dependent neurotransmitter release machinery.Cell Rep, 2016, 15(1): 117-131.

1. Michetti C, Corradi A. PRRT2, a network stability gene.Oncotarget, 2017, 8(34): 55770-55771.
2. Yin XM, Lin JH, Cao L, et al. Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.Hum Mol Genet, 2018, 27(4): 625-637.
3. Ebrahimi-Fakhari D, Saffari A, Westenberger A.The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain, 2015, 138(Pt 12): 3476-3495.
4. Tan GH, Liu YY, Wang L, et al. PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. Cell Res, 2018, 28(1): 90-110.
5. Kros L, De Zeeuw CI. PRRT2-dependent dyskinesia: cerebellar, paroxysmal and persistent. Cell Res, 2018, 28(1): 3-4.
6. Méneret A, Gaudebout C, Riant F, et al. PRRT2 mutations and paroxysmal disorders.Eur J Neurol, 2013, 20(6): 872-878.
7. Paucar M, Malmgren H.Paroxysmal kinesigenic dyskinesia.Tremor Other Hyperkinet Mov (NY), 2017, 7: 529.
8. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.Nat Genet, 2011, 43(12): 1252-1255.
9. Valente P, Castroflorio E, Rossi P, et al. PRRT2 Is a key component of the Ca²⁺-dependent neurotransmitter release machinery.Cell Rep, 2016, 15(1): 117-131.