Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1. Issue 5 (15th May 2022)

• Record Type: Journal Article
• Authors: Yoshida, Syun; Amamoto, Masano; Takahashi, Tomoyuki; Tomita, Ichiro; Yuge, Kotaro; Hara, Munetsugu; Iwama, Kazuhiro; Matsumoto, Naomichi; Matsuishi, Toyojiro
• Is Part Of: Clinical case reports. Volume 10:Issue 5(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-05-15
• Subjects: AMPA receptor -- intractable epilepsy -- perampanel -- Rett‐like disorder -- STXBP1 mutation -- West syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.5811
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : Perampanel markedly improved clinical seizures in a patient showing a Rett‐like phenotype with a de novo 960‐kb deletion at 9q34.11 encompassing the STXBP1 gene. Perampanel may be useful for treating drug‐resistant epilepsy.