Jeavons syndrome - clinical spectrum, diagnostic challenges and innovative treatment strategies

Abstract

Introduction:
Jeavons syndrome (JS), also known as epilepsy with eyelid myoclonus (EEM), is a rare form of genetically generalized epilepsy (GGE) characterized by light-triggered seizures, eyelid myoclonus, and often concurrent absence seizures and GTCS. The condition is sometimes misdiagnosed as neural tics, leading to significant diagnostic delays. In recent years, there has been growing interest in new treatments for JS, including alternative approaches in cases of treatment resistance.
Objective:
The purpose of this study is to provide an update on Jeavons syndrome, including clinical presentation, genetic factors, diagnostic methods and the latest therapeutic strategies.
Methods:
A non-systematic review of the scientific literature from 2020-2025 was performed using PubMed, Google Scholar, Web of Science and Scopus databases. Publications describing JS, treatment of drug-resistant epilepsy, eyelid myoclonus, dietary therapy and modern brain stimulation methods were included.
Results:

The most commonly used first-line drugs are valproic acid, levetiracetam and lamotrigine. In refractory cases, lacosamide, zonisamide, and VNS and RNS have also shown efficacy. The potential of diet therapy (ketogenic, Atkins, low-GI diets) and lentiviral therapy in patients with photosensitivity was identified. The study emphasized the role of genetic diagnosis in personalizing treatment.

Conclusions:

Jeavons syndrome requires a comprehensive therapeutic approach. Standard pharmacotherapy is sometimes insufficient, so adjunctive therapies are playing an increasingly important role. Early diagnosis, consideration of genetic factors and implementation of individualized treatment strategies can significantly improve seizure control and quality of life for patients.