Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1

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 c...

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Detalles Bibliográficos
Autores principales: Yoshida, Syun, Amamoto, Masano, Takahashi, Tomoyuki, Tomita, Ichiro, Yuge, Kotaro, Hara, Munetsugu, Iwama, Kazuhiro, Matsumoto, Naomichi, Matsuishi, Toyojiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107918/
https://www.ncbi.nlm.nih.gov/pubmed/35600024
http://dx.doi.org/10.1002/ccr3.5811

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107918/
https://www.ncbi.nlm.nih.gov/pubmed/35600024
http://dx.doi.org/10.1002/ccr3.5811

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