Exome-wide rare variant analysis in familial essential tremor.

doi:10.1016/j.parkreldis.2020.11.021

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Article

Exome-wide rare variant analysis in familial essential tremor.

Parkinsonism & related disorders - 1 Jan 2021

Diez-Fairen Monica, Houle Gabrielle, Ortega-Cubero Sara, Bandres-Ciga Sara, Alvarez Ignacio, Carcel Maria, Ibañez Laura, Fernandez Maria Victoria, Budde John P, Trotta Jean-Rémi, Tonda Raúl, Chong Jessica X, Bamshad Michael J, Nickerson Deborah A, Aguilar Miquel, Tartari Juan P, Gironell Alexandre, García-Martín Elena, Agundez Jose Ag, Alonso-Navarro Hortensia, Jimenez-Jimenez Felix Javier, Fernandez Manel, Valldeoriola Francesc, Marti Maria Jose, Tolosa Eduard, Coria Francisco, Pastor Maria A, Vilariño-Güell Carles, Rajput Alex, Dion Patrick A, Cruchaga Carlos, Rouleau Guy A, Pastor Pau

Abstract excerpt

INTRODUCTION: Essential tremor (ET) is one of the most common movement disorders. Despite its high prevalence and heritability, its genetic etiology remains elusive with only a few susceptibility genes identified and poorly replicated. Our aim was to find novel candidate genes involved in ET predisposition through whole exome sequencing. METHODS: We studied eight multigenerational families (N = 40 individuals)...

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PMID: 33279834
DOI: 10.1016/j.parkreldis.2020.11.021
PMCID: PMC7856267

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