Open AccessPerampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
Author(s) -
Yoshida Syun,
Amamoto Masano,
Takahashi Tomoyuki,
Tomita Ichiro,
Yuge Kotaro,
Hara Munetsugu,
Iwama Kazuhiro,
Matsumoto Naomichi,
Matsuishi Toyojiro
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5811
Subject(s) - perampanel , epilepsy , phenotype , medicine , rett syndrome , genetics , antiepileptic drug , chromosome , pharmacology , biology , psychiatry , gene
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.