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Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Mazzola, Laure; Oliver, Karen L; Labalme, Audrey; Baykan, Betül; Muona, Mikko; Joensuu, Tarja H; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F; Lehesjoki, Anna-Elina; Lesca, Gaetan.
Afiliação
  • Mazzola L; Neurology Department, Saint-Étienne University Hospital Center, Saint-Étienne, France.
  • Oliver KL; Lyon Neuroscience Research Center, Lyon, France.
  • Labalme A; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Baykan B; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
  • Muona M; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
  • Joensuu TH; Genetics Department, Lyon Civil Hospices, Lyon, France.
  • Courage C; Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Chatron N; Folkhälsan Research Center, Helsinki, Finland.
  • Borsani G; Blueprint Genetics, Helsinki, Finland.
  • Alix E; Folkhälsan Research Center, Helsinki, Finland.
  • Ramond F; Medicum, University of Helsinki, Helsinki, Finland.
  • Touraine R; Folkhälsan Research Center, Helsinki, Finland.
  • Bahlo M; Medicum, University of Helsinki, Helsinki, Finland.
  • Bebek N; Genetics Department, Lyon Civil Hospices, Lyon, France.
  • Berkovic SF; NeuroMyoGène Institute, University of Lyon, Claude Bernard University Lyon 1, Lyon, France.
  • Lehesjoki AE; University of Brescia, Brescia, Italy.
  • Lesca G; Genetics Department, Lyon Civil Hospices, Lyon, France.
Ann Neurol ; 89(2): 402-407, 2021 02.
Article em En | MEDLINE | ID: mdl-33085104
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeo Hidrolases / Epilepsias Mioclônicas Progressivas / Sítios de Splice de RNA Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeo Hidrolases / Epilepsias Mioclônicas Progressivas / Sítios de Splice de RNA Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article