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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.
Afiliação
  • Yoshida S; Children's Medical Center Kitakyushu City Yahata Hospital Kitakyushu Japan.
  • Amamoto M; Children's Medical Center Kitakyushu City Yahata Hospital Kitakyushu Japan.
  • Takahashi T; Division of Gene Therapy and Regenerative Medicine Cognitive and Molecular Research Institute of Brain Diseases Kurume University School of Medicine Kurume Japan.
  • Tomita I; Children's Medical Center Kitakyushu City Yahata Hospital Kitakyushu Japan.
  • Yuge K; Department of Pediatrics and Child Health Kurume University School of Medicine Fukuoka Japan.
  • Hara M; Department of Pediatrics and Child Health Kurume University School of Medicine Fukuoka Japan.
  • Iwama K; Department of Human Genetics Graduate School of Medicine Yokohama City University Kanagawa Japan.
  • Matsumoto N; Department of Human Genetics Graduate School of Medicine Yokohama City University Kanagawa Japan.
  • Matsuishi T; Division of Gene Therapy and Regenerative Medicine Cognitive and Molecular Research Institute of Brain Diseases Kurume University School of Medicine Kurume Japan.
Clin Case Rep ; 10(5): e05811, 2022 May.
Article em En | MEDLINE | ID: mdl-35600024
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2022 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2022 Tipo de documento: Article País de publicação: Reino Unido