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Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang, Xiao; Raju, Praveen K; D'Avanzo, Nazzareno; Lachance, Mathieu; Pepin, Julie; Dubeau, François; Mitchell, Wendy G; Bello-Espinosa, Luis E; Pierson, Tyler M; Minassian, Berge A; Lacaille, Jean-Claude; Rossignol, Elsa.
Afiliação
  • Jiang X; Sainte-Justine University Hospital Center, University of Montréal, Montréal, Canada.
  • Raju PK; Department of Neurosciences, University of Montréal, Montreal, Canada.
  • D'Avanzo N; Sainte-Justine University Hospital Center, University of Montréal, Montréal, Canada.
  • Lachance M; Department of Neurosciences, University of Montréal, Montreal, Canada.
  • Pepin J; Department of Pharmacology and Physiology, University of Montréal, Montréal, Canada.
  • Dubeau F; Sainte-Justine University Hospital Center, University of Montréal, Montréal, Canada.
  • Mitchell WG; Department of Neurosciences, University of Montréal, Montreal, Canada.
  • Bello-Espinosa LE; Department of Neurosciences, The Montreal Neurological Institute, McGill University, Montréal, Canada.
  • Pierson TM; Neurology Division, Children's Hospital Los Angeles & Department of Neurology, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA.
  • Minassian BA; Department of Clinical Neurosciences, University of Calgary, Alberta, Canada.
  • Lacaille JC; Departments of Pediatrics and Neurology, The Board of Governors Regenerative Medicine Institute, Los Angeles, CA, USA.
  • Rossignol E; The Hospital for Sick Children Research Institute, Toronto, Canada.
Epilepsia ; 60(9): 1881-1894, 2019 09.
Article em En | MEDLINE | ID: mdl-31468518
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Encefalopatias / Canais de Cálcio / Síndrome de Lennox-Gastaut / Mutação com Ganho de Função / Mutação com Perda de Função Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Encefalopatias / Canais de Cálcio / Síndrome de Lennox-Gastaut / Mutação com Ganho de Função / Mutação com Perda de Função Idioma: En Ano de publicação: 2019 Tipo de documento: Article