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Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.
Kawasaki, Yuki; Kuki, Ichiro; Ehara, Eiji; Murakami, Yosuke; Okazaki, Shin; Kawawaki, Hisashi; Hara, Munetsugu; Watanabe, Yoriko; Kishimoto, Shintaro; Suda, Kenji; Saitsu, Hirotomo; Matsumoto, Naomichi.
Afiliação
  • Kawasaki Y; Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan. Electronic address: qqtu8uyd@fuga.ocn.ne.jp.
  • Kuki I; Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
  • Ehara E; Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan.
  • Murakami Y; Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan.
  • Okazaki S; Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
  • Kawawaki H; Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
  • Hara M; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Watanabe Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Kishimoto S; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Suda K; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
J Pediatr ; 191: 270-274, 2017 12.
Article em En | MEDLINE | ID: mdl-28987752
ABSTRACT
KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artéria Pulmonar / Canais de Potássio / Epilepsias Parciais / Circulação Colateral / Mutação com Ganho de Função / Proteínas do Tecido Nervoso Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artéria Pulmonar / Canais de Potássio / Epilepsias Parciais / Circulação Colateral / Mutação com Ganho de Função / Proteínas do Tecido Nervoso Idioma: En Ano de publicação: 2017 Tipo de documento: Article