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Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Kluckova, Daniela; Kolnikova, Miriam; Medova, Veronika; Bognar, Csaba; Foltan, Tomas; Svecova, Lucia; Gnip, Andrej; Kadasi, Ludevit; Soltysova, Andrea; Ficek, Andrej.
Afiliação
  • Kluckova D; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
  • Kolnikova M; Department of Paediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40, Bratislava, Slovakia.
  • Medova V; Institute for Clinical and Translational Research, Biomedical Research Centre, Slovak Academy of Sciences, Dubravska cesta 9, 845 05, Bratislava, Slovakia.
  • Bognar C; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
  • Foltan T; Department of Paediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40, Bratislava, Slovakia.
  • Svecova L; Department of Paediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40, Bratislava, Slovakia.
  • Gnip A; Medirex a.s., MEDIREX GROUP, Holubyho 35, 902 01, Pezinok, Slovakia.
  • Kadasi L; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia; Institute for Clinical and Translational Research, Biomedical Research Centre, Slovak Academy of Sciences, Dubravska cesta 9, 845 05, Bratislava, Slovakia.
  • Soltysova A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia; Institute for Clinical and Translational Research, Biomedical Research Centre, Slovak Academy of Sciences, Dubravska cesta 9, 845 05, Bratislava, Slovakia.
  • Ficek A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia. Electronic address: andrej.ficek@uniba.sk.
Epilepsy Res ; 176: 106699, 2021 10.
Article em En | MEDLINE | ID: mdl-34229227
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas Serina-Treonina Quinases / Síndromes Epilépticas Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas Serina-Treonina Quinases / Síndromes Epilépticas Idioma: En Ano de publicação: 2021 Tipo de documento: Article