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 protein 1 on chromosome 9q34.11. Perampanel may be an effective antiepileptic drug for intractable epilepsy associated with STXBP1 mutations.

• Authors: Syun Yoshida, Masano Amamoto, Tomoyuki Takahashi, Ichiro Tomita, Kotaro Yuge, Munetsugu Hara, Kazuhiro Iwama, Naomichi Matsumoto, Toyojiro Matsuishi
• Journal: Clinical case reports (Clin Case Rep) Vol. 10 Issue 5 Pg. e05811 (May 2022) ISSN: 2050-0904 [Print] England
• PMID: 35600024 (Publication Type: Case Reports)
• Copyright: © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.