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A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation.
Akiyama, Mari; Akiyama, Tomoyuki; Saitsu, Hirotomo; Tokioka, Yukie; Tsukahara, Rie; Tsuchiya, Hiroki; Shibata, Takashi; Kobayashi, Katsuhiro.
Afiliação
  • Akiyama M; Department of Pediatrics (Child Neurology), Okayama University Hospital, Okayama, Japan. Electronic address: makiyama@okayama-u.ac.jp.
  • Akiyama T; Department of Pediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Tokioka Y; Department of Pediatrics (Child Neurology), Okayama University Hospital, Okayama, Japan.
  • Tsukahara R; Department of Pediatrics (Child Neurology), Okayama University Hospital, Okayama, Japan.
  • Tsuchiya H; Department of Pediatrics (Child Neurology), Okayama University Hospital, Okayama, Japan.
  • Shibata T; Department of Pediatrics (Child Neurology), Okayama University Hospital, Okayama, Japan.
  • Kobayashi K; Department of Pediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Brain Dev ; 45(10): 597-602, 2023 Nov.
Article em En | MEDLINE | ID: mdl-37550174
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rett / Epilepsias Mioclônicas Progressivas / Epilepsia / Deficiência Intelectual Limite: Adolescent / Adult / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rett / Epilepsias Mioclônicas Progressivas / Epilepsia / Deficiência Intelectual Limite: Adolescent / Adult / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article