title: A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees.
authors.forename: Xiang-Yi
authors.initials: XY
authors.lastname: Jing
authors.forename: Xun-Hua
authors.initials: XH
authors.lastname: Li
authors.forename: Ping
authors.initials: P
authors.lastname: Yuan
authors.forename: Jia
authors.initials: J
authors.lastname: Deng
authors.forename: Bin
authors.initials: B
authors.lastname: Hu
authors.forename: Yiming
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D002819:Chorea / Q000235:genetics*; D004252:DNA Mutational Analysis; D004421:Dystonia; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human