Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.
Genes (Basel)
; 14(2)2023 01 23.
Article
em En
| MEDLINE
| ID: mdl-36833226
ABSTRACT
Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to prolonged seizures. The International League Against Epilepsy (ILAE) identified 13 chromosomal disorders associated with epilepsy (CDAE); data regarding SE occurrence in these patients is lacking. A systematic scoping review was conducted to outline current literature evidence about clinical features, treatments, and outcomes of SE in pediatric and adult patients with CDAE. A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, n = 20), Ring 20 Syndrome (R20, n = 24), and other syndromes (n = 21). Non-convulsive status epilepticus (NCSE) is frequently observed in AS and R20. No specific, targeted therapies for SE in CDAE are available to date; anecdotal reports about SE treatment are described in the text, as well as various brief- and long-term outcomes. Further evidence is needed to precisely portray the clinical features, treatment options, and outcomes of SE in these patients.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos em Anel
/
Estado Epiléptico
/
Transtornos Cromossômicos
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Epilepsia
Tipo de estudo:
Risk_factors_studies
/
Systematic_reviews
Limite:
Adult
/
Child
/
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article