左乙拉西坦
癫痫
拉莫三嗪
全身性癫痫
卡马西平
特发性全身性癫痫
发作类型
眼睑
癫痫综合征
医学
儿科
心理学
脑电图
精神科
皮肤病科
麻醉
外科
作者
Kelsey M. Smith,Elaine Wirrell,Danielle M. Andrade,Hyunmi Choi,Dorothée Kasteleijn‐Nolst Trenité,Kelly G. Knupp,Douglas R. Nordli,Antonella Riva,John M. Stern,Pasquale Striano,Elizabeth A. Thiele,Ifrah Zawar
标识
DOI:10.1016/j.eplepsyres.2023.107147
摘要
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%.
科研通智能强力驱动
Strongly Powered by AbleSci AI