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A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
Paparella, Giulia; Galosi, Eleonora; Irelli, Emanuele Cerulli; Angelini, Luca; Birreci, Daniele; Costa, Davide; De Riggi, Martina; Cannavacciuolo, Antonio; Truini, Andrea; Bologna, Matteo.
Afiliación
  • Paparella G; IRCCS Neuromed, Pozzilli (IS), 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; Department of Human Neurosciences, Sapienza University of Rome, Italy.
  • Birreci D; IRCCS Neuromed, Pozzilli (IS), Italy.
  • Costa D; Department of Human Neurosciences, Sapienza University of Rome, Italy.
  • De Riggi M; IRCCS Neuromed, Pozzilli (IS), Italy.
  • Cannavacciuolo A; Department of Human Neurosciences, Sapienza University of Rome, Italy.
  • Truini A; IRCCS Neuromed, Pozzilli (IS), Italy.
  • Bologna M; Department of Human Neurosciences, Sapienza University of Rome, Italy.
Tremor Other Hyperkinet Mov (N Y) ; 14: 24, 2024.
Article en En | MEDLINE | ID: mdl-38737299
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Temblor / Canal de Potasio KCNQ2 Límite: Female / Humans / Middle aged Idioma: En Revista: Tremor Other Hyperkinet Mov (N Y) Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Temblor / Canal de Potasio KCNQ2 Límite: Female / Humans / Middle aged Idioma: En Revista: Tremor Other Hyperkinet Mov (N Y) Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido