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Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill, Gemma L; Liu, Aijie; Mandelstam, Simone; Schneider, Amy; Lacroix, Amy; Zemel, Matthew; McMahon, Jacinta M; Bello-Espinosa, Luis; Mackay, Mark; Wallace, Geoffrey; Waak, Michaela; Zhang, Jing; Yang, Xiaoling; Malone, Stephen; Zhang, Yue-Hua; Mefford, Heather C; Scheffer, Ingrid E.
Afiliação
  • Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Liu A; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Mandelstam S; Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.
  • Schneider A; Departments of Paediatrics and Radiology, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Lacroix A; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Zemel M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • McMahon JM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Bello-Espinosa L; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Mackay M; Department of Paediatrics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
  • Wallace G; Departments of Paediatrics and Radiology, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Waak M; Department of Neurology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Zhang J; Department of Neurology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Yang X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Malone S; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Zhang YH; Department of Neurology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Mefford HC; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Scheffer IE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Epilepsia ; 59(1): e5-e13, 2018 01.
Article em En | MEDLINE | ID: mdl-29171013
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas de Transporte / Deficiências do Desenvolvimento / Mutação Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas de Transporte / Deficiências do Desenvolvimento / Mutação Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article