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Volumn 69, Issue 5, 2012, Pages 668-670

Two faces of the same coin: Benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BENIGN FAMILIAL INFANTILE SEIZURE; CHROMOSOME 16; DYSKINESIA; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; PAROXYSMAL KINESIGENIC DYSKINESIA; PATHOPHYSIOLOGY; PEDIGREE; PRIORITY JOURNAL; PROLINE RICH TRANSMEMBRANE PROTEIN 2 GENE; SEIZURE;

EID: 84860906296     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2012.187     Document Type: Article
Times cited : (24)

References (7)
  • 1
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    • Paroxysmal kinesigenic choreoathetosis: From first discovery in 1892 to genetic linkage with benign familial infantile convulsions
    • Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res. 2006;70(suppl 1):S174-S184.
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Kato, N.1    Sadamatsu, M.2    Kikuchi, T.3    Niikawa, N.4    Fukuyama, Y.5
  • 2
    • 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(pt 12):3493-3501.
    • (2011) Brain , vol.134 , Issue.PART 12 , pp. 3493-3501
    • Wang, J.L.1    Cao, L.2    Li, X.H.3
  • 3
    • 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(12):1252-1255.
    • (2011) Nat Genet , vol.43 , Issue.12 , pp. 1252-1255
    • Chen, W.J.1    Lin, Y.2    Xiong, Z.Q.3
  • 4
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    • Paroxysmal dyskinesias
    • Bhatia KP. Paroxysmal dyskinesias. Mov Disord. 2011;26(6):1157-1165.
    • (2011) Mov Disord , vol.26 , Issue.6 , pp. 1157-1165
    • Bhatia, K.P.1
  • 6
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • doi:10.1016/j.celrep.2011.1011.1001
    • Lee H-Y, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell. 2012;1(1): 2. doi:10.1016/j.celrep.2011.1011.1001.
    • (2012) Cell , vol.1 , Issue.1 , pp. 2
    • Lee, H.-Y.1    Huang, Y.2    Bruneau, N.3
  • 7
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    • PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
    • Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet. 2012;90(1):152-160.
    • (2012) Am J Hum Genet , vol.90 , Issue.1 , pp. 152-160
    • Heron, S.E.1    Grinton, B.E.2    Kivity, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.