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  1. Article

    Open Access

    Status epilepticus in POLG disease: a large multinational study

    We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threat...

    Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg… in Journal of Neurology (2024)

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  2. No Access

    Chapter

    Diseases of DNA Polymerase Gamma

    Polymerase gamma (Polγ) is the DNA-dependent DNA polymerase responsible for replicating mitochondrial DNA. The enzyme is a trimer and comprises one catalytic subunit (POLG), which contains the polymerase activ...

    Omar Hikmat, Pirjo Isohanni, Anu Suomalainen… in Diagnosis and Management of Mitochondrial … (2019)