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

Yoshida Syun | Zendy; Amamoto Masano | Zendy; Takahashi Tomoyuki | Zendy; Tomita Ichiro | Zendy; Yuge Kotaro | Zendy; Hara Munetsugu | Zendy; Iwama Kazuhiro | Zendy; Matsumoto Naomichi | Zendy; Matsuishi Toyojiro | Zendy

Open Access

Perampanel 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.

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