ABSTRACT

Introduction

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.

Areas covered

A literature search was conducted using Pubmed search on the topics of drug-resistant JME.

Expert Opinion

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.

中文翻译：

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耐药性青少年肌阵挛性癫痫的诊断和治疗方法

摘要

介绍

青少年肌阵挛性癫痫 (JME)，也称为 Janz 综合征，是一种常见形式的全身性癫痫，推测为遗传性癫痫，占所有癫痫病例的 10%。尽管有足够的抗癫痫药物 (ASM) 治疗，但仍有三分之一的 JME 患者癫痫发作。

涵盖的领域

使用 Pubmed 搜索对耐药性 JME 的主题进行了文献搜索。

专家意见

约 30% 的 JME 患者具有耐药性。丙戊酸盐（VPA）被认为是首选药物。对于有生育能力的女性，左乙拉西坦 (LEV) 应该是首选治疗方法。在排除假性耐药后，对具有耐药性癫痫发作的受试者应考虑替代单一疗法或附加疗法。附加 ASM 的选择取决于主要的癫痫发作类型。对于持续性双侧强直-阵挛发作的受试者，应首先考虑 LEV 或拉莫三嗪。对于难以治疗的肌阵挛性癫痫患者，推荐使用氯硝西泮或 LEV。在持续缺席的情况下，应考虑乙琥胺。在适当的选择和保障措施到位的情况下，