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.

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. - In: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. - ISSN 2160-8288. - 14:1(2024). [10.5334/tohm.887]

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
2024

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.
2024
KCNQ2; kinematics; movement disorders; skin biopsy; tremor
01 Pubblicazione su rivista::01a Articolo in rivista
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. - In: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. - ISSN 2160-8288. - 14:1(2024). [10.5334/tohm.887]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1711586
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