@article{2997128, title = "Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant", author = "Mencacci, N.E. and Steel, D. and Magrinelli, F. and Hsu, J. and Keller Sarmiento, I.J. and Troncoso Schifferli, M. and Muñoz, D. and Stefanis, L. and Lubbe, S.J. and Wood, N.W. and Kurian, M.A. and Stamelou, M.", journal = "Movement Disorders", year = "2021", volume = "36", number = "6", pages = "1472-1473", publisher = "John Wiley and Sons Inc", issn = "0885-3185, 1531-8257", doi = "10.1002/mds.28634", keywords = "dopamine 2 receptor; dopamine 2 receptor; DRD2 protein, human, adult; anxiety; attention deficit disorder; case report; child; childhood disease; chorea; chromatography; clinical article; cognitive defect; developmental delay; disease severity; female; gene function; genetic variability; human; intellectual impairment; learning disorder; Letter; male; muscle hypotonia; myoclonus; neurologic examination; preschool child; psychosocial withdrawal; recurrent disease; Sanger sequencing; tongue; trunk; upper limb; walking difficulty; whole genome sequencing; chorea; dystonia; gain of function mutation; genetics; phenotype, Child; Chorea; Dystonia; Gain of Function Mutation; Humans; Phenotype; Receptors, Dopamine D2" }