PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Lee, Yi Chung ^a,b   Lee, Ming Jen ^c   Yu, Hsiang Yu ^a,b   Chen, Chien ^a,b   Hsu, Chang Hung ^d   Lin, Kon Ping ^a,b   Liao, Kwong Kum ^a,b   Chang, Ming Hong ^b,e   Liao, Yi Chu ^b,e   Soong, Bing Wen ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^d TRI SERVICE GENERAL HOSPITAL   (Taiwan)

^e TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CONVULSION; DYSKINESIA; ETHNIC GROUP; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HUMAN; INFANTILE CONVULSION; LABORATORY TEST; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAROXYSMAL KINESIGENIC DYSKINESIA; PROTEIN TRUNCATION; PRRT2 GENE; TAIWAN; TAIWANESE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHOREA; COHORT STUDIES; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; SEIZURES; TAIWAN;

EID: 84864762353     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0038543     Document Type: Article

References (16)

1. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, et al. (2004) Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia. New diagnostic criteria. Neurology 63: 2280-2287.
2. Bhaita KP, (2011) Paroxysmal dyskinesia. Movement disorder 26: 1157-1165.
3. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, et al. (1997) Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 61: 889-898.
4. Swoboda KJ, Soong BW, McKenna C, Brunt ERP, Litt M, et al. (2001) Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. Neurology 57: S42-48.
5. Tomita H, Yamada K, Ghadami M, Ogura T, Yanai Y, et al. (2002) Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. Lancet 359: 2000-2002.
6. Bennett LB, Roach ES, Bowcock AM, (2000) A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology 54: 125-130.
7. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, et al. (2011) Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 43: 1252-1255.
8. Wang JL, Cao L, Li XH, Hu ZM, Li JD, et al. (2012) Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 134: 3490-3498.
9. Li J, Zhu X, Wang X, Sun W, Feng B, et al. (2012) Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 49: 76-78.
10. Lee HY, Huang Y, Bruneau N, Roll P, Roberson EDO, et al. (2012) Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsion. Cell Reports 1: 1-11.
11. Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, et al. (2012) PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 90: 152-160.
12. Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, et al. (2007) Clustal W and Clustal X version 2.0. Bioinformatics 23: 2947-2948.
13. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, et al. (2005) PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21: 3176-3178.
14. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
15. Ng PC, Henikoff S, (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814.
16. Liu Q, Qi Z, Wan XH, Li JY, Shi L, et al. (2012) Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 49: 79-82.