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The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta, Alexandre N; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E; Gardiner, Fiona; Cross, J Helen; Heron, Bénédicte; Kaminska, Anna; Korff, Christian M; Lepine, Anne; Lesca, Gaetan; McTague, Amy; Mefford, Heather C; Mignot, Cyrill; Milh, Matthieu; Piton, Amélie; Pressler, Ronit M; Ruf, Susanne; Sadleir, Lynette G; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E; Ville, Dorothée; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E; Lemke, Johannes R.
Afiliação
  • Datta AN; Pediatric Neurology and Developmental Medicine Department, University Children's Hospital, University of Basel, Basel, Switzerland.
  • Bahi-Buisson N; Pediatric Neurology, Necker-Enfants Malades Children's Hospital, Paris and Institute IMAGINE, INSERM U1163, University of Paris, Paris, France.
  • Bienvenu T; Paris Institute of Psychiatry and Neuroscience, University of Paris, Paris, France.
  • Buerki SE; Pediatric Neurology Department, University Children's Hospital Zürich, Switzerland.
  • Gardiner F; Austin Health, University of Melbourne, Melbourne, Victoria, Australia.
  • Cross JH; Clinical Neuroscience, University College London-Great Ormond Street Institute of Child Health, London, UK.
  • Heron B; Pediatric Neurology Department, Armand Trousseau-La Roche Guyon University Hospital, APHP and GRC No. 19, Sorbonne Universities, Paris, France.
  • Kaminska A; Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, Public Hospital Network of Paris, Paris, France.
  • Korff CM; Pediatric Neurology Unit, Department of Pediatrics, Geneva University Hospital, Geneva, Switzerland.
  • Lepine A; Pediatric Neurology and Metabolic Diseases Department, University Hospital La Timone, Marseilles, France.
  • Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon, France.
  • McTague A; Clinical Neuroscience, University College London-Great Ormond Street Institute of Child Health, London, UK.
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Mignot C; Department of Genetics and Reference Center for Intellectual Deficiencies of Rare Causes, , Sorbonne University, Paris, France.
  • Milh M; Pediatric Neurology Unit, Department of Pediatrics, Geneva University Hospital, Geneva, Switzerland.
  • Piton A; Department of Molecular Genetics, University Hospital Strasbourg, Strasbourg, France.
  • Pressler RM; Clinical Neuroscience, University College London-Great Ormond Street Institute of Child Health, London, UK.
  • Ruf S; Department of Neurophysiology, Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, UK.
  • Sadleir LG; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
  • de Saint Martin A; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
  • Van Gassen K; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Strasbourg, Strasbourg, France.
  • Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Ville D; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Villeneuve N; Pediatric Neurology Department and Reference Center of Rare Epilepsies, Mother Child Women's Hospital, Lyon University Hospital, France.
  • Zacher P; Pediatric Neurology and Metabolic Diseases Department, University Hospital La Timone, Marseilles, France.
  • Scheffer IE; Epilepsy Center Kleinwachau, Radeberg, Germany.
  • Lemke JR; Austin Health, University of Melbourne, Melbourne, Victoria, Australia.
Epilepsia ; 62(2): 325-334, 2021 02.
Article em En | MEDLINE | ID: mdl-33410528
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Deficiências do Desenvolvimento / N-Acetilglucosaminiltransferases / Epilepsia Resistente a Medicamentos Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Deficiências do Desenvolvimento / N-Acetilglucosaminiltransferases / Epilepsia Resistente a Medicamentos Idioma: En Ano de publicação: 2021 Tipo de documento: Article