A comprehensive narrative review of epilepsy with eyelid myoclonia.
Epilepsy Res
; 193: 107147, 2023 07.
Article
em En
| MEDLINE
| ID: mdl-37121024
ABSTRACT
Epilepsy with eyelid myoclonia (EEM) is a generalized epilepsy syndrome with childhood-onset and 21 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%.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epilepsia Generalizada
/
Epilepsia Tipo Ausência
/
Mioclonia
Tipo de estudo:
Clinical_trials
/
Observational_studies
Limite:
Child
/
Female
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Humans
/
Male
Idioma:
En
Revista:
Epilepsy Res
Assunto da revista:
CEREBRO
/
NEUROLOGIA
Ano de publicação:
2023
Tipo de documento:
Article