A comprehensive narrative review of epilepsy with eyelid myoclonia

Kelsey M. Smith, Elaine C. Wirrell, Danielle M. Andrade, Hyunmi Choi, Dorothée Kasteleijn Nolst Trenité, Kelly G. Knupp, Douglas R. Nordli, Antonella Riva, John M. Stern, Pasquale Striano, Elizabeth A. Thiele, Ifrah Zawar

Research output: Contribution to journalReview articlepeer-review

Abstract

Epilepsy with eyelid myoclonia (EEM) is a generalized epilepsy syndrome with childhood-onset and 2:1 female predominance that consists of: 1. eyelid myoclonia with or without absence seizures, 2. eye closure induced seizures or EEG paroxysms, 3. clinical or EEG photosensitivity. While eyelid myoclonia is the disease hallmark, other seizure types, including absence seizures and generalized tonic-clonic seizures, may be present. It is thought to have a genetic etiology, and around one-third of patients may have a positive family history of epilepsy. Recently, specific genetic mutations have been recognized in a minority patients, including in SYNGAP1, NEXMIF, RORB, and CHD2 genes. There are no randomized controlled trials in EEM, and the management literature is largely restricted to small retrospective studies. Broad-spectrum antiseizure medications such as valproate, levetiracetam, lamotrigine, and benzodiazepines are typically used. Seizures typically persist into adulthood, and drug-resistant epilepsy is reported in over 50%.

Original languageEnglish (US)
Article number107147
JournalEpilepsy Research
Volume193
DOIs
StatePublished - Jul 2023

Keywords

  • Absence seizures
  • Genetic generalized epilepsy
  • Photosensitive epilepsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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