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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
van den Ameele, Jelle; Jedlickova, Ivana; Pristoupilova, Anna; Sieben, Anne; Van Mossevelde, Sara; Ceuterick-de Groote, Chantal; Hulková, Helena; Matej, Radoslav; Meurs, Alfred; Van Broeckhoven, Christine; Berkovic, Samuel F; Santens, Patrick; Kmoch, Stanislav; Dermaut, Bart.
Afiliação
  • van den Ameele J; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Jedlickova I; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Pristoupilova A; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Sieben A; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Van Mossevelde S; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Ceuterick-de Groote C; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Hulková H; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Matej R; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Meurs A; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Van Broeckhoven C; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Berkovic SF; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Santens P; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Kmoch S; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
  • Dermaut B; From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neuro
Neurology ; 90(8): e658-e663, 2018 02 20.
Article em En | MEDLINE | ID: mdl-29352102
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas / Expansão das Repetições de DNA / Proteína C9orf72 Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2018 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: Epilepsias Mioclônicas Progressivas / Expansão das Repetições de DNA / Proteína C9orf72 Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article