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Volumn 80, Issue 16, 2013, Pages 1534-1535

Clinical/scientific notes

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; MEMBRANE PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG; ANTICONVULSIVE AGENT; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

EID: 84878759666     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31828cf7e1     Document Type: Note
Times cited : (60)

References (7)
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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.
    • (2004) Neurology , vol.63 , pp. 2280-2287
    • Bruno, M.K.1    Hallett, M.2    Gwinn-Hardy, K.3
  • 2
    • 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
  • 3
    • 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;134:3493-3501.
    • (2011) Brain , vol.134 , pp. 3493-3501
    • Wang, J.L.1    Cao, L.2    Li, X.H.3
  • 4
    • 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
  • 5
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • 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.
    • (2012) Cell Rep , vol.1 , pp. 2-12
    • Lee, H.Y.1    Huang, Y.2    Bruneau, N.3
  • 6
    • 84864762353 scopus 로고    scopus 로고
    • PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort
    • Lee YC, Lee MJ, Yu HY, et al. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLoS One 2012;7:e38543.
    • (2012) PLoS One , vol.7
    • Lee, Y.C.1    Lee, M.J.2    Yu, H.Y.3
  • 7
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    • PRRT2 c. 649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia
    • Li HF, Ni W, Xiong ZQ, Xu JF, Wu ZY. PRRT2 c. 649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia. CNS Neurosci Ther 2013;19:61-65.
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    • Li, H.F.1    Ni, W.2    Xiong, Z.Q.3    Xu, J.F.4    Wu, Z.Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.