A comprehensive narrative review of epilepsy with eyelid myoclonia.

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%.

Informations de copyright

Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests KMS receives research funding through a grant from CURE Epilepsy. ECW has received consulting income from Acadia, Amicus, Neurocrine and Encoded Therapeutics. She also receives income from Epilepsy.com for serving as Co-Editor in Chief. DMA reports no disclosures relevant to this work. HC reports no disclosures of interest. DKNT serves as a consultant for Otsuka Pharmaceutical Co and Praxis Pharma. KGK has consulted with UCB, Zogenix, Eisai, and Nile and has DSMB work with Epygenix and Jazz pharmaceuticals. DRN repots no disclosures of interest. AR has received support for travel to meetings from Jazz Pharmaceuticals and has done consultancies for PTC Therapeutics, Kolfarma Srl, and Proveca Ltd. JMS is a consultant for UCB, SK Life, Neurelis, Ceribell, Jazz and a speaker for LivaNova and Snunovion. PS received research support/fees from ENECTA BV, Jazz Pharmaceuticals, Kolfarma, Neuraxpharma. EAT is a consultant for GW Pharma/Jazz Pharmaceuticals, Zogenix/UCB, BridgeBio, Stoke Therapeutics, LivaNova, Takeda, Aditum Bio, and Nobelpharma and serves of on scientific advisory board for Marinus Therapeutics and receives research support from GW pharma/Jazz Pharmaceuticals and Zongenix/UCB. IZ reports no disclosures of interest.