Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings.

Tanriverdi, Uygur; Ser, Merve Hazal; Yesil, Gozde; Gunduz, Aysegul; Ozkara, Cigdem; Kiziltan, Meral E

Tanriverdi, Uygur; Ser, Merve Hazal; Yesil, Gozde; Gunduz, Aysegul; Ozkara, Cigdem; Kiziltan, Meral E.

Afiliação

Tanriverdi U; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey. Electronic address: uygur.tanriverdi@istanbul.edu.tr.
Ser MH; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Yesil G; Department of Medical Genetics, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Gunduz A; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Ozkara C; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Kiziltan ME; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Parkinsonism Relat Disord ; 99: 73-75, 2022 06.

Article em En | MEDLINE | ID: mdl-35617746

Assuntos

Epilepsias Mioclônicas Progressivas; Mioclonia; Eletroencefalografia; Eletromiografia; Humanos; Mutação; Epilepsias Mioclônicas Progressivas/complicações; Epilepsias Mioclônicas Progressivas/genética; Mioclonia/diagnóstico; Mioclonia/etiologia; Irmãos

Palavras-chave

Action myoclonus renal failure; EEG; EMG; Myoclonus; SCARB2

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas Progressivas / Mioclonia Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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