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家族性成年肌阵挛性癫痫的当前治疗选择。

Current treatment options for familial adult myoclonus epilepsy.

机构信息

Department of Neuroscience, Reproductive Sciences, and Odontostomatology, Federico II University of Naples, Naples, Italy.

IRCCS Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE Bologna, Bologna, Italy.

出版信息

Epilepsia. 2023 Jun;64 Suppl 1:S58-S63. doi: 10.1111/epi.17590. Epub 2023 Apr 4.

Abstract

Familial adult myoclonus epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus, and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME. Clinical management is essentially symptomatic and based on antiseizure medications (ASMs). The choice of the correct therapeutic option is limited to ASMs that have both an antiseizure and an antimyoclonic effect, such as valproate, levetiracetam, benzodiazepines, and perampanel. However, these medications control seizures well while having a limited effect on myoclonus and cortical tremor. In addition, many ASMs, including sodium channel blockers and gabapentin, are contraindicated in this condition. The ideal therapeutic option would be a precision treatment able to revert the genetic defect underlying it. Nevertheless, this does not seem to be an option that will be available soon.

摘要

家族性成年肌阵挛性癫痫(FAME)是一种遗传性疾病,其特征是出现皮质震颤、肌阵挛和癫痫。迄今为止,FAME 既没有治愈方法,也没有预防方法。临床管理主要是对症治疗,基于抗癫痫药物(ASM)。正确治疗选择的范围仅限于具有抗癫痫和抗肌阵挛作用的 ASM,如丙戊酸、左乙拉西坦、苯二氮䓬类和吡仑帕奈。然而,这些药物虽然能很好地控制癫痫发作,但对肌阵挛和皮质震颤的效果有限。此外,许多 ASM,包括钠离子通道阻滞剂和加巴喷丁,在这种情况下是禁忌的。理想的治疗选择将是一种能够纠正其潜在遗传缺陷的精准治疗方法。然而,这似乎不是一个很快就能实现的选择。

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