Giulia Paparella, Eleonora Galosi, Emanuele Cerulli Irelli, Luca Angelini, Daniele Birreci, Davide Costa, Martina De Riggi, Antonio Cannavacciuolo, Andrea Truini, Matteo Bologna
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A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
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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