The purpose of this review is to provide a comprehensive update and highlight the distinct electroclinical features and discuss recent advances in the etiology, pathophysiology, and management strategies of epilepsy with eyelid myoclonia. Recent studies indicate that variations of certain genes including CHD2 (chromodomain helicase DNA-binding protein 2), KCNB1, KIAA2022, and NAA10 may occur in these patients. It has been postulated that the occipital cortex may play a role in the pathophysiology. Recent studies of functional imaging and connectivity of neuronal electrical activity have provided additional evidence to support this hypothesis. The frontal cortex has additionally been implicated, and it has been suggested that the epileptic cortex may extend beyond the occipital cortex to involve the posterior temporal cortex. We update the management strategies and describe tools that may predict seizure persistence. Epilepsy with eyelid myoclonias, or Jeavons syndrome, is an idiopathic generalized epilepsy characterized by the triad of eyelid myoclonia with or without absence seizures, eyelid closure-elicited electroencephalographic (EEG) paroxysms (epileptiform discharges and/or seizures), and photosensitivity. This condition may account for up to 13% of generalized epilepsies. However, it is frequently under-reported and under-recognized. Many of the patients develop medically refractory epilepsy, and seizures tend to persist throughout life.

这篇综述的目的是提供全面的更新，突出不同的电临床特征，并讨论癫痫伴眼睑肌阵挛的病因学、病理生理学和治疗策略的最新进展。最近的研究表明，某些基因的变异包括CHD2（染色体解旋酶 DNA 结合蛋白 2）、KCNB1、KIAA2022和NAA10可能发生在这些患者身上。据推测，枕叶皮质可能在病理生理学中起作用。最近对功能成像和神经元电活动连接性的研究为支持这一假设提供了额外的证据。额叶皮层也受到牵连，有人提出癫痫皮层可能延伸到枕叶皮层之外，涉及后颞叶皮层。我们更新了管理策略并描述了可以预测癫痫发作持续性的工具。伴有眼睑肌阵挛的癫痫或 Jeavons 综合征是一种特发性全身性癫痫，其特征在于伴有或不伴有失神发作、眼睑闭合诱发脑电图 (EEG) 发作（癫痫样放电和/或癫痫发作）和光敏性的眼睑肌阵挛三联征。这种情况可能占全身性癫痫的 13%。然而，它经常被低估和低估。许多患者发展为药物难治性癫痫，并且癫痫发作往往会持续一生。