Mutations of proline-rich transmembrane protein-2 and paroxysmal kinesigenic dyskinesia in Taiwan

Movement Disorders

Volumn 28, Issue 10, 2013, Pages 1459-1460

  Chen, Yi Chun ^a   Lee, Yun Shien ^b,c   Shih, Chen Chang ^d   Wu, Tony ^a   Chen, Chiung Mei ^a  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b MING CHUAN UNIVERSITY   (Taiwan)

^c CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^d Hualien Mennonite Christian Hospital   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; LAMOTRIGINE; MEMBRANE PROTEIN; PHENYTOIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ADULT; BASE PAIRING; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRIORITY JOURNAL; STOP CODON; TAIWAN;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DYSTONIA; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; TAIWAN; YOUNG ADULT;

EID: 84884712947     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25399     Document Type: Letter

References (5)

1. Meneret 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.
2. Lee HY, Huang Y, Bruneau N, et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012;1:2-12.
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. Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134:3493-3501.
5. Chang CT, Tsai CN, Tang CY, et al. Mixed sequence reader: a program for analyzing DNA sequences with heterozygous base calling [serial online]. ScientificWorldJournal 2012;2012:365104.