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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo-Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchane, Mondher; Ville, Dorothée; Marignier, Stéphanie; Rougeot, Christelle; Lebrun, Marine; de Saint Martin, Anne; Perez, Alexandra; Riquet, Audrey; Badens, Catherine; Missirian, Chantal; Philip, Nicole; Chabrol, Brigitte; Villard, Laurent; Milh, Mathieu.
Afiliação
  • Di Meglio C; Pediatric Neurology Department, Timone Children Hospital, Marseille, France.
  • Lesca G; INSERM, U1028, CNRS, UMR5292, Laboratory of Molecular Genetics, Lyon, France.
  • Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Marseille, France.
  • Lacoste C; Aix Marseille University, INSERM, UMR_S 910, Marseille, France.
  • Abidi A; Medical Genetics Department, Timone Children Hospital, Marseille, France.
  • Cacciagli P; Aix Marseille University, GMGF, Marseille, France.
  • Altuzarra C; Aix Marseille University, INSERM, UMR_S 910, Marseille, France.
  • Roubertie A; Aix Marseille University, GMGF, Marseille, France.
  • Afenjar A; Aix Marseille University, INSERM, UMR_S 910, Marseille, France.
  • Renaldo-Robin F; Medical Genetics Department, Timone Children Hospital, Marseille, France.
  • Isidor B; Aix Marseille University, GMGF, Marseille, France.
  • Gautier A; Department of Pediatrics, St. Jacques Hospital, Besançon, France.
  • Husson M; Pediatric Neurology Department, Montpellier University Hospital, Montpellier, France.
  • Cances C; Institute for Neurosciences of Montpellier (INM), INSERM U 1051, Montpellier, France.
  • Metreau J; Pediatric Neurology Department, Trousseau Hospital, AP-HP, Paris, France.
  • Laroche C; Pediatric Neurology Department, Trousseau Hospital, AP-HP, Paris, France.
  • Chouchane M; Medical Genetics Department, Nantes University Hospital, Nantes, France.
  • Ville D; Department of Pediatrics, Nantes University Hospital, Nantes, France.
  • Marignier S; Pediatric Neurology Department, Bordeaux University Hospital, Bordeaux, France.
  • Rougeot C; Pediatric Neurology Department, Toulouse University Hospital, Toulouse, France.
  • Lebrun M; Pediatric Neurology Department, Bicêtre Hospital, Kremlin-Bicêtre, France.
  • de Saint Martin A; Department of Pediatrics, Limoges University Hospital, Limoges, France.
  • Perez A; Department of Pediatrics, Dijon University Hospital, Dijon, France.
  • Riquet A; Pediatric Neurology Department, Lyon University Hospital, Bron, France.
  • Badens C; Pediatric Neurology Department, Lyon University Hospital, Bron, France.
  • Missirian C; Pediatric Neurology Department, Lyon University Hospital, Bron, France.
  • Philip N; Medical Genetics Department, St Etienne University Hospital, Saint Priez en Jarez, France.
  • Chabrol B; Pediatric Neurology Department, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.
  • Villard L; Pediatric Intensive Cares Unit, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.
  • Milh M; Pediatric Neurology Department, Lille University Hospital, Lille, France.
Epilepsia ; 56(12): 1931-40, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26514728
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Proteínas Munc18 Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Ano de publicação: 2015 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Proteínas Munc18 Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Ano de publicação: 2015 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos