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Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues, Francisco S; König, Eva; Schwienbacher, Christine; Volpato, Claudia B; Picard, Anne; Cantaloni, Chiara; Mascalzoni, Deborah; Lackner, Peter; Heimbach, André; Hoffmann, Per; Stanzial, Franco; Hicks, Andrew A; Parmeggiani, Lucio; Benedicenti, Francesco; Pellegrin, Serena; Casara, Gianluca; Pramstaller, Peter P.
Afiliação
  • Domingues FS; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy. Electronic address: francisco.domingues@eurac.edu.
  • König E; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Department of Biosciences, University of Salzburg, Salzburg, Austria.
  • Schwienbacher C; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
  • Volpato CB; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
  • Picard A; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
  • Cantaloni C; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
  • Mascalzoni D; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
  • Lackner P; Department of Biosciences, University of Salzburg, Salzburg, Austria.
  • Heimbach A; NGS Core Facility, Life & Brain Center, University of Bonn, Bonn, Germany.
  • Hoffmann P; Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
  • Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Hicks AA; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
  • Parmeggiani L; Child Neurology and Neurorehabilitation Unit, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Pellegrin S; Child Neurology and Neurorehabilitation Unit, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Casara G; Child Neurology and Neurorehabilitation Unit, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Pramstaller PP; Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Department of Neurology, University of Lübeck, Lübeck, Germany.
Seizure ; 66: 81-85, 2019 Mar.
Article em En | MEDLINE | ID: mdl-30818181
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Saúde da Família / Epilepsia / Megalencefalia / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: Seizure Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Saúde da Família / Epilepsia / Megalencefalia / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: Seizure Ano de publicação: 2019 Tipo de documento: Article