一名合并震颤综合征患者的新型 KCNQ2 变体

IF 2.5 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements Pub Date : 2024-05-09 eCollection Date: 2024-01-01 DOI:10.5334/tohm.887

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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引用次数: 0

摘要

背景：震颤症有多种遗传原因：一名有震颤家族史的 60 岁女性出现了合并震颤综合征、短暂的接触丧失和语言障碍，以及远端疼痛症状。基因筛查发现该患者的 KCNQ2 基因存在一个新的杂合错义变异：讨论：KCNQ2 蛋白调节动作电位的发射，其基因突变与癫痫和神经性疼痛有关。已确定的变异虽然意义不明，但可能会破坏 KCNQ2 的功能，并在震颤发病机制中发挥作用。该病例凸显了对合并震颤症进行基因筛查的重要性。

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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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来源期刊

Tremor and Other Hyperkinetic Movements CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

4.50%

发文量

审稿时长

6 weeks