Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.,CNS Neuroscience & Therapeutics

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Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.
CNS Neuroscience & Therapeutics ( IF 4.8 ) Pub Date : 2020-03-20 , DOI: 10.1111/cns.13305
Ya-Ping Yan ₁ , Cong-Ying Xu ₂ , Lu-Yan Gu ₁ , Bo Zhang ₃ , Ting Shen ₁ , Ting Gao ₁ , Jun Tian ₁ , Jia-Li Pu ₁ , Xin-Zhen Yin ₁ , Bao-Rong Zhang ₁ , Guo-Hua Zhao _{1,

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Affiliation

Essential tremor (ET) is one of the most prevalent movement disorders. The genetic etiology of ET has not been well defined although a significant proportion (≥50%) are familial cases. Linkage analysis and genome‐wide association studies (GWASs) have identified several risk variants. In recent years, whole‐exome sequencing of ET has revealed several specific causal variants in FUS (p.Q290X), HTRA2 (p.G399S), and TENM4 (c.4324 G>A, c.4100C>A, and c.3412G>A) genes.

更新日期：2020-03-20

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