Eyelid myoclonia with absences: an overlooked epileptic syndrome?

Abstract

Aim: To identify, among patients referred to our Epilepsy Center, those fulfilling eyelid myoclonia with absences (EMA) criteria and to evaluate their semiological, electroclinical and evolutive features. In addition, to examine some possible causes of underdiagnosis and to stress the role of video-EEG (VEEG) recording. Materials and methods: Retrospective analysis of 2780 epileptic patients. Inclusion criteria: Eyelid myoclonia and brief absences, related to EEG generalized paroxysmal activity and triggered by eye closure and/or by intermittent photic stimulation. Results: 7.46% of our patients with idiopathic generalized epilepsy (IGE) could be classified as EMA. Female/male ratio was 1.7:1. Familial history of epilepsy was present in about half of the patients, with two pairs of identical twins in the sample. Rare generalized tonic–clonic seizures occurred in most cases. Conclusions: EMA is a not infrequent condition among IGEs. It is likely to be underdiagnosed due to the subtle clinical semiology and to masking of EEG changes by the effects of age and anti-epileptic drugs. VEEG analysis is often needed for diagnosis of EMA. Most likely, only genetic research will be able to clarify whether EMA is a distinct epileptic syndrome.