Research progress in epilepsy with eyelid myoclonia

VernacularTitle:眼睑肌阵挛癫痫的研究进展
Author: Chenwei LI ¹ ; Yuwen GAO ; Xinyu WEN ; Wenhao WEN ; Yonghong LIU
Author Information

1. 空军军医大学西京医院神经内科，西安　711032
Keywords: Epilepsy; Epilepsies, myoclonic; Epilepsy, generalized; Electroencephalography; Magnetic resonance imaging
From: Chinese Journal of Neurology 2024;57(12):1371-1376
CountryChina
Language:Chinese
Abstract: 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.