Ontology highlight
ABSTRACT:
SUBMITTER: Yan YP
PROVIDER: S-EPMC7366735 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Yan Ya-Ping YP Xu Cong-Ying CY Gu Lu-Yan LY Zhang Bo B Shen Ting T Gao Ting T Tian Jun J Pu Jia-Li JL Yin Xin-Zhen XZ Zhang Bao-Rong BR Zhao Guo-Hua GH
CNS neuroscience & therapeutics 20200320 8
<h4>Introduction</h4>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.<h4>Objectiv ...[more]