PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases

Movement Disorders

Volumn 28, Issue 9, 2013, Pages 1313-1314

  Shi, Chang he ^a   Sun, Shi lei ^a   Wang, Jun ling ^b,c   Liu, Ai qin ^a   Miao, Wang ^a   Avinash, Chandra ^a   Mao, Xiao ^b,c   Tang, Bei sha ^b,c   Xu, Yu ming ^a  

^a THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; GLYCINE; ION CHANNEL; MEMBRANE PROTEIN; PROLINE RICH PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; THREONINE; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; CHINA; EXON; FAMILIAL DISEASE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HAPLOINSUFFICIENCY; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; INTRON; PAROXYSMAL KINESIGENIC DYSKINESIA; PRIORITY JOURNAL; RISK FACTOR;

ASIAN CONTINENTAL ANCESTRY GROUP; CHOREA; COHORT STUDIES; FAMILY HEALTH; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS;

EID: 84883560348     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25370     Document Type: Article

References (7)

1. Bhatia KP. Paroxysmal dyskinesias. Mov Disord. 2011;26:1157-1165.
2. Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain. 2011;134:3490-3498.
3. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43:1252-1255.
4. Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012;1:2-12.
5. Li J, Zhu X, Wang X, et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet. 2012;49:76-78.
6. Liu Q, Qi Z, Wan XH, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet. 2012;49:79-82.
7. Méneret A, Grabli D, Depienne C, et al. PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology. 2012;79:170-174.