Department of Neurology, Mayo Clinic, Rochester, MN, United States.
Department of Neurology, Mayo Clinic, Rochester, MN, United States.
Epilepsy Res. 2023 Jul;193:107147. doi: 10.1016/j.eplepsyres.2023.107147. Epub 2023 Apr 26.
Epilepsy with eyelid myoclonia (EEM) is a generalized epilepsy syndrome with childhood-onset and 2:1 female predominance that consists of: 1. eyelid myoclonia with or without absence seizures, 2. eye closure induced seizures or EEG paroxysms, 3. clinical or EEG photosensitivity. While eyelid myoclonia is the disease hallmark, other seizure types, including absence seizures and generalized tonic-clonic seizures, may be present. It is thought to have a genetic etiology, and around one-third of patients may have a positive family history of epilepsy. Recently, specific genetic mutations have been recognized in a minority patients, including in SYNGAP1, NEXMIF, RORB, and CHD2 genes. There are no randomized controlled trials in EEM, and the management literature is largely restricted to small retrospective studies. Broad-spectrum antiseizure medications such as valproate, levetiracetam, lamotrigine, and benzodiazepines are typically used. Seizures typically persist into adulthood, and drug-resistant epilepsy is reported in over 50%.
眼睑肌阵挛性癫痫（EEM）是一种具有儿童起病和 2:1 女性优势的全面性癫痫综合征，包括：1. 眼睑肌阵挛伴或不伴失神发作，2. 闭眼诱发的癫痫发作或 EEG 发作，3. 临床或 EEG 光敏性。尽管眼睑肌阵挛是该疾病的标志，但可能存在其他发作类型，包括失神发作和全面性强直阵挛发作。据认为其具有遗传病因，约三分之一的患者可能存在癫痫阳性家族史。最近，少数患者中已发现特定的基因突变，包括 SYNGAP1、NEXMIF、RORB 和 CHD2 基因。EEM 中尚无随机对照试验，管理文献主要限于小的回顾性研究。通常使用丙戊酸钠、左乙拉西坦、拉莫三嗪和苯二氮䓬类等广谱抗癫痫药物。癫痫发作通常持续到成年期，报道的耐药性癫痫超过 50%。
