Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the STXBP1.
Clin Case Rep
; 10(5): e05811, 2022 May.
Article
em En
| MEDLINE
| ID: mdl-35600024
ABSTRACT
Intractable epilepsy was successfully controlled using perampanel, an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid-type glutamate receptor antagonist, in a 27-year-old woman who presented with a Rett syndrome-like phenotype and novel 960-kb deletion involving syntaxin-binding protein 1 on chromosome 9q34.11. Perampanel may be an effective antiepileptic drug for intractable epilepsy associated with STXBP1 mutations.
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Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2022
Tipo de documento:
Article