ArticleTremor and other hyperkinetic movements (New York, N.Y.)2024
A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Analyzing the 'Bradykinesia Complex' in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
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10 authors.
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Abstract
Background: Tremor disorders have various genetic causes. Case report: A 60-year-old female with a family history of tremor presented a combined tremor syndrome, transient episodes of loss of contact and speech disturbances, as well as distal painful symptoms. Genetic screening revealed a novel heterozygous missense variant in the KCNQ2 gene. Discussion: The KCNQ2 protein regulates action potential firing, and mutations in its gene are associated with epilepsy and neuropathic pain. The identified variant, although of uncertain significance, may disrupt KCNQ2 function and also play a role in tremor pathogenesis. This case highlights the importance of genetic screening in combined tremor disorders.
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