ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat, O; Tzoulis, C; Knappskog, P M; Johansson, S; Boman, H; Sztromwasser, P; Lien, E; Brodtkorb, E; Ghezzi, D; Bindoff, L A

Hikmat, O; Tzoulis, C; Knappskog, P M; Johansson, S; Boman, H; Sztromwasser, P; Lien, E; Brodtkorb, E; Ghezzi, D; Bindoff, L A.

Afiliación

Hikmat O; Department of Paediatrics, Haukeland University Hospital, Bergen, Norway.
Tzoulis C; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
Knappskog PM; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
Johansson S; Department of Neurology, Haukeland University Hospital, Bergen, Norway.
Boman H; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
Sztromwasser P; Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Lien E; Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Brodtkorb E; Department of Biomedicine, University of Bergen, Bergen, Norway.
Ghezzi D; K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Bergen, Norway.
Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

Eur J Neurol ; 23(7): 1188-94, 2016 07.

Article en En | MEDLINE | ID: mdl-27106809

Asunto(s)

Ataxia/diagnóstico; Ataxia Cerebelosa/diagnóstico; Epilepsia/diagnóstico; Enfermedades Mitocondriales/diagnóstico; Encefalomiopatías Mitocondriales/diagnóstico; Proteínas Mitocondriales/genética; Debilidad Muscular/diagnóstico; Mutación; Ubiquinona/deficiencia; Adulto; Ataxia/genética; Ataxia Cerebelosa/genética; Diagnóstico Diferencial; Epilepsia/genética; Femenino; Humanos; Masculino; Enfermedades Mitocondriales/genética; Debilidad Muscular/genética; Fenotipo; Ubiquinona/genética; Adulto Joven

Palabras clave

ADCK3; CABC1; POLG; ataxia; coenzyme Q10; epilepsia partialis continua; mitochondria; stroke-like episodes

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Ataxia Cerebelosa / Ubiquinona / Encefalomiopatías Mitocondriales / Debilidad Muscular / Enfermedades Mitocondriales / Proteínas Mitocondriales / Epilepsia / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article

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