Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

• Irene Flønes,

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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• Paweł Sztromwasser,

  Affiliations Department of Clinical Science, University of Bergen, Bergen, Norway, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway, Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway

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• Kristoffer Haugarvoll,

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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• Christian Dölle,

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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• Maria Lykouri,

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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• Thomas Schwarzlmüller,

  Affiliations Department of Clinical Medicine, University of Bergen, Bergen, Norway, Department of Radiology, Haukeland University Hospital, Bergen, Norway

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• Inge Jonassen,

  Affiliation Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway

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• Hrvoje Miletic,

  Affiliations Department of Pathology, Haukeland University Hospital, Bergen, Norway, Department of Biomedicine, University of Bergen, Bergen, Norway, KG Jebsen Brain Tumor Research Center, University of Bergen, Bergen, Norway

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• Stefan Johansson,

  Affiliations Department of Clinical Science, University of Bergen, Bergen, Norway, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway, K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Bergen, Norway

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• Per M. Knappskog,

  Affiliations Department of Clinical Science, University of Bergen, Bergen, Norway, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway, K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Bergen, Norway

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• Laurence A. Bindoff,

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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• Charalampos Tzoulis

  * E-mail: Charalampos.Tzoulis@nevro.uib.no

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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