Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Regional Epilepsy Centre, Great Metropolitan Hospital, Via Melacrino, Reggio, Calabria, Italy.
Expert Rev Neurother. 2021 Nov;21(11):1265-1273. doi: 10.1080/14737175.2021.1931126. Epub 2021 May 25.
Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of generalized epilepsy of presumed genetic origin representing up to 10% of all epilepsy cases. Despite adequate anti-seizure medication (ASM) treatment, seizures persist in one-third of JME patients.
A literature search was conducted using Pubmed search on the topics of drug-resistant JME.
About 30% of JME patients are drug-resistant. Valproate (VPA) is considered the first-choice drug. In women of childbearing potential, levetiracetam (LEV) should represent the first-choice treatment. Alternative monotherapy or add-on therapy should be considered in subjects with resistant seizures after the exclusion of pseudo-drug resistance. The choice of the add-on ASM depends on the predominant seizure type. In subjects with persistent bilateral tonic-clonic seizures, LEV or lamotrigine should be firstly considered. In patients with difficult-to-treat myoclonic seizures, clonazepam or LEV are recommended. In case of persistent absences, ethosuximide should be considered. With appropriate selection and safeguards in place, VPA should remain available as an option in women of childbearing potential whose seizures are resistant to other treatments.
青少年肌阵挛癫痫（JME），又称 Janz 综合征，是一种常见的遗传性全身性癫痫，占所有癫痫病例的 10%。尽管进行了适当的抗癫痫药物（ASM）治疗，但仍有三分之一的 JME 患者存在癫痫发作。
使用 Pubmed 搜索针对耐药性 JME 的主题进行了文献检索。
约 30%的 JME 患者存在耐药性。丙戊酸（VPA）被认为是首选药物。对于有生育能力的女性，应将左乙拉西坦（LEV）作为首选治疗药物。在排除假性耐药后，对于耐药性癫痫发作的患者，应考虑替代单药治疗或添加治疗。添加 ASM 的选择取决于主要的癫痫发作类型。对于持续双侧强直阵挛发作的患者，应首先考虑使用 LEV 或拉莫三嗪。对于治疗困难的肌阵挛性癫痫患者，建议使用氯硝西泮或 LEV。对于持续失神发作的患者，应考虑使用乙琥胺。如果进行适当的选择和保障措施，VPA 仍可作为生育期女性的选择，这些女性的癫痫发作对其他治疗方法耐药。
