Zawar I, Knight EP. Epilepsy with Eyelid Myoclonia (Jeavons Syndrome): A comprehensive update, Pediatric Neurology (2020), doi: https://doi.org/10.1016/j.pediatrneurol.2020.11.018.
Purpose of Review
The purpose of this review is to provide a comprehensive update and highlight the distinct electro-clinical features and discuss recent advances in etiology, pathophysiology and management strategies of epilepsy with eyelid myoclonias.
Recent studies indicate that certain gene mutations including CHD2 (chromo-domain helicase DNA binding protein 2), KCNB1, KIAA2022, and NAA10 may be found in these patients. In the past, it has been postulated that occipital cortex may play a role in the disease pathophysiology. Recent studies of functional MRI and connectivity of neuronal electrical activity have found additional evidence to support this hypothesis. 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 as well. An update on management strategies is discussed and recently described tools that maybe indicative of seizure persistence are discussed in this paper.
Epilepsy with eyelid myoclonias or Jeavons Syndrome is an idiopathic generalized epilepsy characterized by the triad of eyelid myoclonia with or without absences, eyelid closure elicited electroencephalographic paroxysms (epileptiform discharges and/or seizures) and photosensitivity. This epilepsy may accounts for up to 12.9% of generalized epilepsies. However, it is frequently under-reported and under-recognized. A large number of patients become medically refractory and it has tendency to persist throughout life. Therefore, it is an important epilepsy for all neurologists to recognize as it is likely to be managed by both pediatric and adult neurologists.