A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.

Autor:	Paparella G; IRCCS Neuromed, Pozzilli (IS), Italy.; Department of Human Neurosciences, Sapienza University of Rome, Italy., Galosi E; Department of Human Neurosciences, Sapienza University of Rome, Italy., Irelli EC; Department of Human Neurosciences, Sapienza University of Rome, Italy., Angelini L; IRCCS Neuromed, Pozzilli (IS), Italy., Birreci D; Department of Human Neurosciences, Sapienza University of Rome, Italy., Costa D; IRCCS Neuromed, Pozzilli (IS), Italy., De Riggi M; Department of Human Neurosciences, Sapienza University of Rome, Italy., Cannavacciuolo A; IRCCS Neuromed, Pozzilli (IS), Italy., Truini A; Department of Human Neurosciences, Sapienza University of Rome, Italy., Bologna M; IRCCS Neuromed, Pozzilli (IS), Italy.; Department of Human Neurosciences, Sapienza University of Rome, Italy.
Jazyk:	angličtina
Zdroj:	Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2024 May 09; Vol. 14, pp. 24. Date of Electronic Publication: 2024 May 09 (Print Publication: 2024).
DOI:	10.5334/tohm.887
Abstrakt:	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. Competing Interests: The authors have no competing interests to declare. (Copyright: © 2024 The Author(s).)
Databáze:	MEDLINE
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