A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Temblor
/
Canal de Potasio KCNQ2
Límite:
Female
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Humans
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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