Ontology highlight
ABSTRACT:
SUBMITTER: Hor H
PROVIDER: S-EPMC4692992 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Hor Hyun H Francescatto Ludmila L Bartesaghi Luca L Ortega-Cubero Sara S Kousi Maria M Lorenzo-Betancor Oswaldo O Jiménez-Jiménez Felix J FJ Gironell Alexandre A Clarimón Jordi J Drechsel Oliver O Agúndez José A G JA Kenzelmann Broz Daniela D Chiquet-Ehrismann Ruth R Lleó Alberto A Coria Francisco F García-Martin Elena E Alonso-Navarro Hortensia H Martí Maria J MJ Kulisevsky Jaume J Hor Charlotte N CN Ossowski Stephan S Chrast Roman R Katsanis Nicholas N Pastor Pau P Estivill Xavier X
Human molecular genetics 20150717 20
Essential tremor (ET) is a common movement disorder with an estimated prevalence of 5% of the population aged over 65 years. In spite of intensive efforts, the genetic architecture of ET remains unknown. We used a combination of whole-exome sequencing and targeted resequencing in three ET families. In vitro and in vivo experiments in oligodendrocyte precursor cells and zebrafish were performed to test our findings. Whole-exome sequencing revealed a missense mutation in TENM4 segregating in an au ...[more]