Article
Copy Number Variant Duplications Associated with Essential Tremor.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2026
Medeiros Miranda, Liao Calwing, Dilliott Allison A, Ross Jay P, Vuokila Veikko, Aboasali Farah, Castonguay Charles-Etienne, Spiegelman Dan, Hopfner Franziska, Vilariño-Güell Carles, García-Martín Elena, Alonso-Navarro Hortensia, Agúndez José A G, Jiménez-Jiménez Félix Javier, Pastor Pau, Rajput Alex, Rajput Ali, Deuschl Günther, Kuhlenbäumer Gregor, Girard Simon L, Farhan Sali M K, Dion Patrick A, Rouleau Guy A
Abstract excerpt
Background: Essential tremor (ET) is a complex neurological disorder with a strong genetic basis, yet there remains a disparity between its estimated heritability and currently known genetic risk. This missing heritability has led to a lack of appropriate treatments and has exacerbated the misdiagnosis of patients. Methods: To address the missing heritability of ET, we called copy number variants (CNVs) in a...
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