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Volumn 27, Issue 6, 2012, Pages 707-

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesia

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROLINE RICH PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; SNARE PROTEIN; UNCLASSIFIED DRUG;

EID: 84861701614     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25038     Document Type: Note
Times cited : (11)

References (9)
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    • Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
    • Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004; 63: 2280-2287.
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  • 2
    • 0034111168 scopus 로고    scopus 로고
    • Episodic movement disorders as channelopathies
    • Bhatia KP, Griggs RC, Ptacek L. Episodic movement disorders as channelopathies. Mov Disord 2000; 15: 429-433.
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    • Bhatia, K.P.1    Griggs, R.C.2    Ptacek, L.3
  • 3
    • 33947620465 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families
    • Kikuchi T, Nomura M, Tomita H, et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 2007; 52: 334-341.
    • (2007) J Hum Genet , vol.52 , pp. 334-341
    • Kikuchi, T.1    Nomura, M.2    Tomita, H.3
  • 4
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports 2012; 1: 2-12.
    • (2012) Cell Reports , vol.1 , pp. 2-12
    • Lee, H.Y.1    Huang, Y.2    Bruneau, N.3
  • 5
    • 82255186531 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
    • 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.
    • (2011) Nat Genet , vol.43 , pp. 1252-1255
    • Chen, W.J.1    Lin, Y.2    Xiong, Z.Q.3
  • 6
    • 83755205987 scopus 로고    scopus 로고
    • Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
    • Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011; 134: 3490-3498.
    • (2011) Brain , vol.134 , pp. 3490-3498
    • Wang, J.L.1    Cao, L.2    Li, X.H.3
  • 7
    • 84862776732 scopus 로고    scopus 로고
    • Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
    • 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.
    • (2012) J Med Genet , vol.49 , pp. 76-78
    • Li, J.1    Zhu, X.2    Wang, X.3
  • 8
    • 0033775093 scopus 로고    scopus 로고
    • A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
    • Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000; 123: 2040-2045.
    • (2000) Brain , vol.123 , pp. 2040-2045
    • Valente, E.M.1    Spacey, S.D.2    Wali, G.M.3
  • 9
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    • Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene
    • Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 2002; 17: 717-725.
    • (2002) Mov Disord , vol.17 , pp. 717-725
    • Spacey, S.D.1    Valente, E.M.2    Wali, G.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.