Art

J-GLOBAL ID：202002262565274180   Reference number：20A1689136

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

FHF1発生およびてんかん性脳症の表現型の定義【JST・京大機械翻訳】

Author (36)： Trivisano Marina (Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu Children’s Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy) ,  Ferretti Alessandro (Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu Children’s Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy) ,  Bebin Elizabeth (Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, AL, USA) ,  Huh Linda (Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC, Canada) ,  Lesca Gaetan (Service de Genetique, Hospices Civils de Lyon, Lyon, France) ,  Lesca Gaetan (Institut Neuromyogene, Equipe Metabolisme energetique et developpement neuronal, CNRS, UMR 5310, INSERM U1217, Universite Lyon 1, Lyon, France) ,  Siekierska Aleksandra (Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium) ,  Takeguchi Ryo (Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan) ,  Carneiro Maryline (Department of Pediatric Neurology, Femme Mere Enfant Hospital, Hospices Civils de Lyon, Lyon, France) ,  De Palma Luca (Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu Children’s Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy) ,  Guella Ilaria (Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC, Canada) ,  Haginoya Kazuhiro (Department of Pediatric Neurology, Miyagi Children’s Hospital, Sendai, Japan) ,  Shi Ruo Ming (Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan) ,  Shi Ruo Ming (Department of Pediatrics, First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, China) ,  Kikuchi Atsuo (Department of Pediatrics, Tohoku University Hospital, Sendai, Japan) ,  Kobayashi Tomoko (Division of Child Development, Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan) ,  Jung Julien (Service de Genetique, Hospices Civils de Lyon, Lyon, France) ,  Jung Julien (Institut Neuromyogene, Equipe Metabolisme energetique et developpement neuronal, CNRS, UMR 5310, INSERM U1217, Universite Lyon 1, Lyon, France) ,  Lagae Lieven (Department of Development and Regeneration, University Hospitals KU Leuven, Leuven, Belgium) ,  Milh Mathieu (Department of Pediatric Neurology, Femme Mere Enfant Hospital, Hospices Civils de Lyon, Lyon, France) ,  Mathieu Marie L. (Department of Pediatric Neurology, Femme Mere Enfant Hospital, Hospices Civils de Lyon, Lyon, France) ,  Minassian Berge A. (Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA) ,  Novelli Antonio (Genetics and Rare Diseases Research Division, Bambino Gesu Children’s Hospital IRCCS, Rome, Italy) ,  Pietrafusa Nicola (Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu Children’s Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy) ,  Takeshita Eri (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Tartaglia Marco (Genetics and Rare Diseases Research Division, Bambino Gesu Children’s Hospital IRCCS, Rome, Italy) ,  Terracciano Alessandra (Genetics and Rare Diseases Research Division, Bambino Gesu Children’s Hospital IRCCS, Rome, Italy) ,  Thompson Michelle L. (Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA) ,  Cooper Gregory M. (Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA) ,  Vigevano Federico (Department of Neuroscience, Bambino Gesu Children’s Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy) ,  Villard Laurent (Aix Marseille University, Inserm, MMG, Marseille, France) ,  Villeneuve Nathalie (Department of Pediatric Neurology, APHM, Hopital de la Timone, Marseille, France) ,  Buyse Gunnar M. (Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium) ,  Demos Michelle (Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC, Canada) ,  Scheffer Ingrid E. (Austin Health, and Royal Children’s Hospital, Florey and Murdoch Institutes, University of Melbourne, Melbourne, Australia) ,  Specchio Nicola (Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu Children’s Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy)
Material： Epilepsia  (Journal of the International League Against Epilepsy)
Volume： 61  Issue： 7  Page： e71-e78  Publication year： 2020 
JST Material Number： T0368A  ISSN： 0013-9580  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Fibroblast growth-factor homol...

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Thesaurus term： heredity ,  chromosome ,  protein ,  *epilepsy ,  *phenotype ,  drug resistance ,  spectrum ,  gonad ,  cytosol ,  intelligence disorder ,  NMR imaging ,  seizure(disease) ,  missense mutation ,  genetic variation
Semi thesaurus term： 小脳萎縮 , 【Automatic Indexing@JST】

Author keywords (6)： developmental and epileptic encephalopathy ,  epilepsy ,  FGF12 ,  FHF1 ,  genetic ,  neonatal onset

JST classification (2)： Genetic variation  (EC01030Y) ,  Molecular genetics in general  (EC02010J)

Terms in the title (3)： てんかん性脳症 ,  表現型 ,  定義