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1 Institute of Clinical Medicine, University of Oslo, Norway 2 Department of Neurology, Oslo University Hospital, Norway 3 Department of Neurology, Vestre Viken Hospital, Norway 4 Department of Medical Genetics, Oslo University Hospital, Norway 5 Department of Radiology and Nuclear Medicine, Oslo University Hospital, Norway 6 Department of Ophthalmology, Oslo University Hospital, Norway 7 Department of Clinical Neurophysiology, Oslo University Hospital, Norway 8 Department of Medical Biochemistry, University of Oslo, Norway 9 Department of Microbiology, Oslo University Hospital, Norway 10 Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Norway 11 National Centre for Epilepsy, Oslo University Hospital, Norway

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis