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Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
Rudolf, Gabrielle; de Bellescize, Julitta; de Saint Martin, Anne; Arzimanoglou, Alexis; Valenti Hirsch, Maria Paola; Labalme, Audrey; Boulay, Clotilde; Simonet, Thomas; Boland, Anne; Deleuze, Jean François; Nitschké, Patrick; Ollivier, Emmanuelle; Sanlaville, Damien; Hirsch, Edouard; Chelly, Jamel; Lesca, Gaetan.
Afiliação
  • Rudolf G; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS U 7104 - Inserm U1258, Illkirch, France; Université de Strasbourg, France; Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • de Bellescize J; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon, Lyon, France.
  • de Saint Martin A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS U 7104 - Inserm U1258, Illkirch, France; Department of Pediatrics, Pediatric Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon, Lyon, France.
  • Valenti Hirsch MP; Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Labalme A; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon, Lyon, France.
  • Boulay C; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS U 7104 - Inserm U1258, Illkirch, France; Université de Strasbourg, France; Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Simonet T; Department of Cell Biotechnology, University Hospital of Lyon, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Lyon, France.
  • Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Université Paris Saclay, CEA, 91057, Evry, France.
  • Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Université Paris Saclay, CEA, 91057, Evry, France.
  • Nitschké P; Institut Imagine, Bioinformatic Platform, Université Paris Descartes, Paris, France.
  • Ollivier E; Institut Imagine, Bioinformatic Platform, Université Paris Descartes, Paris, France.
  • Sanlaville D; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Lyon, France; Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France.
  • Hirsch E; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS U 7104 - Inserm U1258, Illkirch, France; Université de Strasbourg, France; Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS U 7104 - Inserm U1258, Illkirch, France; Université de Strasbourg, France; Laboratory of Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Lyon, France; Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address: gaetan.lesca@chu-lyon.fr.
Eur J Paediatr Neurol ; 27: 104-110, 2020 Jul.
Article em En | MEDLINE | ID: mdl-32600977
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Parciais / Predisposição Genética para Doença Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Parciais / Predisposição Genética para Doença Idioma: En Ano de publicação: 2020 Tipo de documento: Article