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A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Kluckova, Daniela; Kolnikova, Miriam; Lacinova, Lubica; Jurkovicova-Tarabova, Bohumila; Foltan, Tomas; Demko, Viktor; Kadasi, Ludevit; Ficek, Andrej; Soltysova, Andrea.
Afiliação
  • Kluckova D; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
  • Kolnikova M; Department of Pediatric Neurology, Comenius University Medical School and National Institute of Children's Diseases, Limbova 1, Bratislava, 833 40, Slovakia.
  • Lacinova L; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Dubravská cesta 9, Bratislava, 840 05, Slovakia.
  • Jurkovicova-Tarabova B; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Dubravská cesta 9, Bratislava, 840 05, Slovakia.
  • Foltan T; Department of Pediatric Neurology, Comenius University Medical School and National Institute of Children's Diseases, Limbova 1, Bratislava, 833 40, Slovakia.
  • Demko V; Department of Plant Physiology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
  • Kadasi L; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
  • Ficek A; Institute for Clinical and Translational Research, Biomedical Research Center, 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.
Sci Rep ; 10(1): 10288, 2020 06 24.
Article em En | MEDLINE | ID: mdl-32581296
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.1 / Potenciais da Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.1 / Potenciais da Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article