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Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L; Minassian, Berge A; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L; Cooper, Gregory M; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M; Demos, Michelle; Scheffer, Ingrid E; Specchio, Nicola.
Afiliação
  • Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
  • Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
  • Bebin E; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Huh L; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.
  • Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Siekierska A; Institut Neuromyogène, Equipe Métabolisme énergétique et développement neuronal, CNRS, UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.
  • Takeguchi R; Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Carneiro M; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
  • De Palma L; Department of Pediatric Neurology, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France.
  • Guella I; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
  • Haginoya K; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.
  • Shi RM; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kobayashi T; Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
  • Jung J; Department of Pediatrics, Tohoku University Hospital, Sendai, Japan.
  • Lagae L; Division of Child Development, Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
  • Milh M; Service de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Mathieu ML; Institut Neuromyogène, Equipe Métabolisme énergétique et développement neuronal, CNRS, UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.
  • Minassian BA; Department of Development and Regeneration, University Hospitals KU Leuven, Leuven, Belgium.
  • Novelli A; Department of Pediatric Neurology, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France.
  • Pietrafusa N; Department of Pediatric Neurology, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France.
  • Takeshita E; Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Terracciano A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
  • Thompson ML; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Cooper GM; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Vigevano F; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Villard L; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA.
  • Villeneuve N; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA.
  • Buyse GM; Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
  • Demos M; Aix Marseille University, Inserm, MMG, Marseille, France.
  • Scheffer IE; Department of Pediatric Neurology, APHM, Hopital de la Timone, Marseille, France.
  • Specchio N; Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
Epilepsia ; 61(7): e71-e78, 2020 07.
Article em En | MEDLINE | ID: mdl-32645220
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Encefalopatias / Epilepsia / Fatores de Crescimento de Fibroblastos / Deficiência Intelectual Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Encefalopatias / Epilepsia / Fatores de Crescimento de Fibroblastos / Deficiência Intelectual Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália