TMEM151A variants associated with paroxysmal kinesigenic dyskinesia-Reference-Cited by-同舟云学术

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TMEM151A variants associated with paroxysmal kinesigenic dyskinesia

Published:2023-03-01 Issue:8 Volume:142 Page:1017-1028
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum. Genet.

Author:

Huang Hua lin,Zhang Qing xia,Huang Fei,Long Xiao yan,Song Zhi,Xiao Bo,Li Guo liang,Ma Cai yu^ORCID,Liu Ding^ORCID

Funder

National Natural Science Foundation of China

the Wisdom Accumulation and Talent Cultivation Project of the Third xiangya hospital of Central South University

Science and Technology Program of Hunan Province

the Natural Foundation of Xinjiang Uygur Autonomous Region

the Scientific Research Program of Hunan Provincial Health Commission

the Open Research Program of Key Laboratory of Regenerative Biology of Chinese Academy of Sciences

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-023-02535-3.pdf

Reference33 articles.

1. 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, Lu 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 (2021) Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China. Transl Neurodegener 10:7. https://doi.org/10.1186/s40035-021-00231-8

2. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY (2011) Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 43:1252–1255. https://doi.org/10.1038/ng.1008

3. Chen Y, Chen D, Zhao S, Liu G, Li H, Wu ZY (2021) Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions. Front Med 15:877–886. https://doi.org/10.1007/s11684-021-0863-4

4. Chen YL, Chen DF, Li HF, Wu ZY (2022) Features differ between paroxysmal kinesigenic dyskinesia patients with PRRT2 and TMEM151A variants. Mov Disord 37:608–613. https://doi.org/10.1002/mds.28939

5. Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C (2015) The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 138:3476–3495. https://doi.org/10.1093/brain/awv317

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1. Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia;Movement Disorders;2024-03-04

2. Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms;Neuroscience Bulletin;2023-12-13

3. Editorial for the Neurogenetics and Neurogenomics special issue;Human Genetics;2023-07-21

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