Finsterer Josef, Zarrouk-Mahjoub Sinda
Krankenanstalt Rudolfstiftung, Vienna, Austria.
University of Tunis El Manar, Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Seizure. 2017 Aug;50:166-170. doi: 10.1016/j.seizure.2017.06.010. Epub 2017 Jun 24.
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported. There are no guidelines available for the management of epilepsy in MERRF syndrome but several expert opinions and general recommendations for the treatment of mitochondrial epilepsy have been published. According to these recommendations the antiepileptic drugs (AEDs) of choice are levetiracetam, topiramate, zonisamide, piracetam, and benzodiazepines. Perampanel has not been applied in MERRF patients but is promising in non-mitochondrial myoclonic epilepsy. Mitochondrion-toxic agents, including mitochondrion-toxic AEDs, such as valproate, carbamazepine, phenytoin, and barbiturates, should be avoided as well as AEDs potentially enhancing the frequency of myoclonus, such as phenytoin, carbamazepine, lamotrigine, vigabatrin, tiagabine, gabapentin, pregabalin, and oxcarbazepine.
肌阵挛性癫痫伴破碎红纤维（MERRF）综合征是一种罕见的综合征型线粒体疾病（MID），具有广泛的表型但狭窄的基因型异质性。除了肌病外，主要的表型特征之一是癫痫。MERRF中最常见的癫痫发作类型是全身性肌阵挛发作，但也有报道称存在局灶性肌阵挛、局灶性失张力、全身性强直-阵挛、全身性失张力、全身性肌阵挛-失张力、典型失神发作或发作起始不明的强直-阵挛发作。目前尚无MERRF综合征癫痫管理的指南，但已发表了一些关于线粒体癫痫治疗的专家意见和一般建议。根据这些建议，首选的抗癫痫药物（AEDs）是左乙拉西坦、托吡酯、唑尼沙胺、吡拉西坦和苯二氮䓬类药物。吡仑帕奈尚未应用于MERRF患者，但在非线粒体肌阵挛性癫痫中前景良好。应避免使用线粒体毒性药物，包括线粒体毒性AEDs，如丙戊酸盐、卡马西平、苯妥英和巴比妥类药物，以及可能增加肌阵挛发作频率的AEDs，如苯妥英、卡马西平、拉莫三嗪、vigabatrin、替加宾、加巴喷丁、普瑞巴林和奥卡西平。
