Article

Copy Number Variant Duplications Associated with Essential Tremor

2025-10-23

Abstract excerpt

<h4>Background</h4> Essential tremor (ET) is a complex neurological disorder with a strong genetic basis, yet there remains a disparity between the estimated heritability and the currently known genetic risk of ET. This missing heritability of ET has led to a lack of appropriate treatments and has exacerbated the misdiagnosis of patients. <h4>Methods</h4> To address the missing heritability of ET, we called copy...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 44046e18-a98b-5527-a3ab-f51d0290a3a1
DOI: 10.1101/2025.10.21.25337184

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Copy Number Variant Duplications Associated with Essential TremorDOI 10.1101/2025.10.21.25337184Read

Copy Number Variant Duplications Associated with Essential Tremor.Semantic proximity Read

Exome-wide rare variant analysis in familial essential tremor.Semantic proximity Read

Copy number variants from 4,800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesSemantic proximity Read

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomesSemantic proximity Read

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.Semantic proximity Read

DNA sequence features underlying large-scale duplications and deletions in humanSemantic proximity Read

Challenges in essential tremor genetics.Semantic proximity Read

Essential tremor.Semantic proximity Read

Genome-Wide Meta-Analysis Identifies 47 Novel Loci and Links Essential Tremor to Ventral Diencephalon and Cerebellum MorphometrySemantic proximity Read

Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies.Semantic proximity Read

Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.Semantic proximity Read

Global characterization of copy number variants in epilepsy patients from whole genome sequencingSemantic proximity Read