Article
Candidate variants in TUB are associated with familial tremor.
PLoS genetics - 1 Sept 2020
Sailani M Reza, Jahanbani Fereshteh, Abbott Charles W, Lee Hayan, Zia Amin, Rego Shannon, Winkelmann Juliane, Hopfner Franziska, Khan Tahir N, Katsanis Nicholas, Müller Stefanie H, Berg Daniela, Lyman Katherine M, Mychajliw Christian, Deuschl Günther, Bernstein Jonathan A, Kuhlenbäumer Gregor, Snyder Michael P
Abstract excerpt
Essential tremor (ET) is the most common adult-onset movement disorder. In the present study, we performed whole exome sequencing of a large ET-affected family (10 affected and 6 un-affected family members) and identified a TUB p.V431I variant (rs75594955) segregating in a manner consistent with autosomal-dominant inheritance. Subsequent targeted re-sequencing of TUB in 820 unrelated individuals with sporadic ET...
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