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Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Hackenberg, Annette; Baumer, Alessandra; Sticht, Heinrich; Schmitt, Bernhard; Kroell-Seger, Judith; Wille, David; Joset, Pascal; Papuc, Sorina; Rauch, Anita; Plecko, Barbara.
Afiliação
  • Hackenberg A; Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
  • Baumer A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Sticht H; Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen, Germany.
  • Schmitt B; Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
  • Kroell-Seger J; Swiss Epilepsy Centre, Zurich, Switzerland.
  • Wille D; Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
  • Joset P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Papuc S; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Plecko B; Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
Neuropediatrics ; 45(4): 261-4, 2014 Aug.
Article em En | MEDLINE | ID: mdl-24710820
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atetose / Coreia / Mutação de Sentido Incorreto / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.2 / Distúrbios do Sono por Sonolência Excessiva Limite: Female / Humans / Infant Idioma: En Revista: Neuropediatrics Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atetose / Coreia / Mutação de Sentido Incorreto / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.2 / Distúrbios do Sono por Sonolência Excessiva Limite: Female / Humans / Infant Idioma: En Revista: Neuropediatrics Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Suíça