title: A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.
authors.affiliation: Department of Neurology, Charite-University Medicine Campus CVK, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: gregor.wenzel@charite.de.
authors.forename: Gregor R
authors.initials: GR
authors.lastname: Wenzel
authors.affiliation: Institute of Neurogenetics, University of Luebeck, Maria-Goeppert-Straße 1, 23562 Luebeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.
authors.forename: Katja
authors.initials: K
authors.lastname: Lohmann
authors.affiliation: Department of Neurology, Charite-University Medicine Campus CVK, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: Andrea.Kuehn@charite.de.
authors.forename: Andrea A
authors.initials: AA
authors.lastname: Kühn
mesh_terms: D000328:Adult; D020821:Dystonic Disorders / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
keywords: ATP1A3; DYT12; De-novo-mutation; Haplotype-analysis; RDP