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

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

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 prote...

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Bibliographic Details
Main Authors: Syun Yoshida, Masano Amamoto, Tomoyuki Takahashi, Ichiro Tomita, Kotaro Yuge, Munetsugu Hara, Kazuhiro Iwama, Naomichi Matsumoto, Toyojiro Matsuishi
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Clinical Case Reports
Subjects:
AMPA receptor
intractable epilepsy
perampanel
Rett‐like disorder
STXBP1 mutation
West syndrome
Online Access:https://doi.org/10.1002/ccr3.5811

Internet

https://doi.org/10.1002/ccr3.5811

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