Novel missense variant in the TMEM151A gene causing paroxysmal kinesigenic dyskinesia: a case report with literature review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-06669-0.pdf
Reference11 articles.
1. Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W et al (2021) Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China. Transl Neurodegener. https://doi.org/10.1186/s40035-021-00231-8
2. Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG et al (2011) Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain. https://doi.org/10.1093/brain/awr289
3. Liu X, Ke H, Qian X, Wang S, Zhan F, Li Z et al (2022) Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia. J Neurol. https://doi.org/10.1007/s00415-022-11103-0
4. Li H, Chen Y, Zhuang L, Chen D, Ke H, Luo W et al (2021) TMEM151A variants cause paroxysmal kinesigenic dyskinesia. Cell Discov. https://doi.org/10.1038/s41421-021-00322-w
5. Tian WT, Zhan FX, Liu ZH, Liu Z, Liu Q, Guo XN et al (2022) TMEM151A variants cause paroxysmal kinesigenic dyskinesia: a large-sample study. Movement Disord. https://doi.org/10.1002/mds
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