Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

Parkinsonism and Related Disorders

Volumn 18, Issue 5, 2012, Pages 704-706

  Cao, Li ^a   Huang, Xiao Jun ^a   Zheng, Lan ^a   Xiao, Qin ^a   Wang, Xi Jin ^a   Chen, Sheng Di ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DYSKINESIA; FEMALE; GENE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; LETTER; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAROXYSMAL KINESIGENIC DYSKINESIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PRRT2 GENE; SCHOOL CHILD;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DNA MUTATIONAL ANALYSIS; DYSTONIA; FAMILY HEALTH; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; YOUNG ADULT;

EID: 84862811273     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.02.006     Document Type: Letter

References (5)

1. Bruno M.K., Hallett M., Gwinn-Hardy K., Sorensen B., Considine E., Tucker S., et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004, 63(12):2280-2287.
2. Tomita H., Nagamitsu S., Wakui K., Fukushima Y., Yamada K., Sadamatsu M., et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 1999, 65(6):1688-1697.
3. Chen W.J., Lin Y., Xiong Z.Q., Wei W., Ni W., Tan G.H., et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011, 43(12):1252-1255.
4. Wang J.L., Cao L., Li X.H., Hu Z.M., Li J.D., Zhang J.G., et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011 Dec, 134(Pt 12):3490-3498.
5. Li J., Zhu X., Wang X., Sun W., Feng B., Du T., et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 2011 Nov 30, [Epub ahead of print].