Details

Autor(en) / Beteiligte

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

Titel

A comprehensive narrative review of epilepsy with eyelid myoclonia

Ist Teil von

• Epilepsy research, 2023-07, Vol.193, p.107147-107147, Article 107147

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2023

Quelle

MEDLINE

Beschreibungen/Notizen

• 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%. •Epilepsy with eyelid myoclonia is an under-recognized generalized epilepsy syndrome.•Eyelid myoclonia are frequent and may occur multiple times a day.•Specific genetic mutations have been found in some patients.•There is limited data about treatment, and drug-resistant epilepsy is common.