Abstract
O6-1 Loss-of-function mutations in the gene encoding the dopamine transporter, SLC6A3, cause Infantile Parkinsonism Dystonia (IPD) M.A. Kurian1,2 *, J. Zhen3, S.-Y. Cheng3, Y. Li3, S.R. Mordekar4, P. Jardine5, N.V. Morgan1, E. Meyer1, L. Tee1, S. Pasha1, E. Wassmer2, B. Assmann6, S.J.R. Heales7, P. Gissen1, M.E.A. Reith3, E.R. Maher1,8. 1Medical and Molecular Genetics, Birmingham University, Birmingham, UK; 2Paediatric Neurology, Birmingham Children’s Hospital, Birmingham, UK; 3Psychiatry and Pharmacology, New York University School of Medicine, New York, USA; 4Paediatric Neurology, Sheffield Children’s Hospital, Sheffield, UK; 5Paediatric Neurology, Bristol Children’s Hospital, Bristol, UK; 6Paediatric Neurology, University Children’s Hospital, Dusseldorf, Germany; 7Neurometabolic Unit, National Hospital, Queen Square & Department of Chemical Pathology, Great Ormond Street Hospital, UK; 8West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK
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