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An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Wilbur, Colin; Buerki, Sarah E; Guella, Ilaria; Toyota, Eric B; Evans, Daniel M; McKenzie, Marna B; Datta, Anita; Michoulas, Aspasia; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Farrer, Matthew J; Connolly, Mary B; Demos, Michelle.
Afiliação
  • Wilbur C; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Buerki SE; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Guella I; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, British Columbia, Canada.
  • Toyota EB; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Evans DM; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, British Columbia, Canada.
  • McKenzie MB; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, British Columbia, Canada.
  • Datta A; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Michoulas A; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Adam S; Department of Medical Genetics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Van Allen MI; Department of Medical Genetics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Nelson TN; Department of Pathology, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada; Department of Laboratory Medicine, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Farrer MJ; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, British Columbia, Canada.
  • Connolly MB; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada. Electronic address: mdemos@cw.bc.ca.
Pediatr Neurol ; 75: 87-90, 2017 Oct.
Article em En | MEDLINE | ID: mdl-28811059

Texto completo: 1 Base de dados: MEDLINE Assunto principal: ATPase Trocadora de Sódio-Potássio / Epilepsia / Hemiplegia / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: ATPase Trocadora de Sódio-Potássio / Epilepsia / Hemiplegia / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article