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Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita.
Afiliação
  • Plecko B; Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Zweier M; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.
  • Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Mathis D; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.
  • Schmitt B; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Striano P; Clinical Chemistry, University Children's Hospital Zurich, Zurich, Switzerland.
  • Baethmann M; Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Vari MS; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, G. Gaslini Institute, Genova, Italy.
  • Beccaria F; Sozialpädiatrisches Zentrum, Dritter Orden, München-Nymphenburg, Munich, Germany.
  • Zara F; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, G. Gaslini Institute, Genova, Italy.
  • Crowther LM; Child Neuropsychiatry, C. Poma Hospital, Mantova, Italy.
  • Joset P; IRCCS, University of Genova, G. Gaslini Institute, Genova, Italy.
  • Sticht H; Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Papuc SM; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Rauch A; Institute of Biochemistry, University of Erlangen-Nuernberg, Erlangen, Germany.
J Med Genet ; 54(12): 809-814, 2017 12.
Article em En | MEDLINE | ID: mdl-28391250
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Predisposição Genética para Doença / Vitamina B 6 / Epilepsia / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Predisposição Genética para Doença / Vitamina B 6 / Epilepsia / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça