title: Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.
authors.forename: Li
authors.initials: L
authors.lastname: Cao
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Huang
authors.forename: Lan
authors.initials: L
authors.lastname: Zheng
authors.forename: Qin
authors.initials: Q
authors.lastname: Xiao
authors.forename: Xi-Jin
authors.initials: XJ
authors.lastname: Wang
authors.forename: Sheng-Di
authors.initials: SD
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human