眼睑肌阵挛癫痫的研究进展  

Research progress in epilepsy with eyelid myoclonia

作　　者：李晨蔚 高玉雯 汶欣玗 温文灏 刘永红 Li Chenwei;Gao Yuwen;Wen Xinyu;Wen Wenhao;Liu Yonghong(Department of Neurology,Xijing Hospital,the Air Force Military Medical University,Xi′an710032,China)

机构地区：[1]空军军医大学西京医院神经内科,西安711032

出　　处：《中华神经科杂志》2024年第12期1371-1376,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金(82372033);国家重点研发计划(2022YFC2503806);陕西省重点研发计划(2023-YBSF-199)。

摘　　要：眼睑肌阵挛癫痫(EEM)即Jeavons综合征,是一种被国际抗癫痫联盟正式认可的遗传性全面性癫痫。EEM的临床特征包括眼睑肌阵挛、合眼敏感性和光敏感,通常在儿童期起病,女性患者居多。EEM的预后较差,即使规范药物治疗也难以完全控制发作。EEM的脑电图多表现为发作间期快的全面性棘-慢复合波,且可通过合眼或光刺激诱发。功能磁共振成像等发现EEM存在脑网络异常,特别是丘脑中央中核在皮质兴奋性调节中的关键作用。遗传学研究发现EEM可能与CHD2、SYNGAP1、NEXMIF、RORB和GABRA1等基因变异有关。Epilepsy with eyelid myoclonia(EEM),also known as Jeavons syndrome,is a type of genetic generalized epilepsy officially recognized by the International League Against Epilepsy.The clinical characteristics of EEM include eyelid myoclonia,eye closure sensitivity,and photosensitivity,typically manifesting in childhood with a higher prevalence in female patients.The prognosis of EEM is poor,and seizures are difficult to fully control even with standardized drug treatment.The electroencephalogram of EEM often shows fast interictal multiple spike-wave complexes,which can be induced by eye closure or photic stimulation.Functional magnetic resonance imaging and other studies have found that EEM is associated with brain network abnormalities,particularly the key role of the central medial thalamic nucleus in the regulation of cortical excitability.Genetic research has found that EEM may be related to variations in genes such as CHD2,SYNGAP1,NEXMIF,RORB,and GABRA1.

关 键 词：癫痫 癫痫 肌阵挛性 癫痫 全面性 脑电描记术 磁共振成像 

分 类 号：R742.1[医药卫生—神经病学与精神病学]