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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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
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author Yoshida, Syun
Amamoto, Masano
Takahashi, Tomoyuki
Tomita, Ichiro
Yuge, Kotaro
Hara, Munetsugu
Iwama, Kazuhiro
Matsumoto, Naomichi
Matsuishi, Toyojiro
author_facet Yoshida, Syun
Amamoto, Masano
Takahashi, Tomoyuki
Tomita, Ichiro
Yuge, Kotaro
Hara, Munetsugu
Iwama, Kazuhiro
Matsumoto, Naomichi
Matsuishi, Toyojiro
author_sort Yoshida, Syun
collection PubMed
description 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.
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spelling pubmed-91079182022-05-20 Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1 Yoshida, Syun Amamoto, Masano Takahashi, Tomoyuki Tomita, Ichiro Yuge, Kotaro Hara, Munetsugu Iwama, Kazuhiro Matsumoto, Naomichi Matsuishi, Toyojiro Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-05-15 /pmc/articles/PMC9107918/ /pubmed/35600024 http://dx.doi.org/10.1002/ccr3.5811 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Yoshida, Syun
Amamoto, Masano
Takahashi, Tomoyuki
Tomita, Ichiro
Yuge, Kotaro
Hara, Munetsugu
Iwama, Kazuhiro
Matsumoto, Naomichi
Matsuishi, Toyojiro
Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
title Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
title_full Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
title_fullStr Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
title_full_unstemmed Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
title_short Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
title_sort perampanel markedly improved clinical seizures in a patient with a rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the stxbp1
topic Case Reports
url 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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