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Volumn 17, Issue 6, 2010, Pages 800-807

Paroxysmal kinesigenic choreoathetosis: Evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families

Author keywords

Chromosome 16; Genetics; Linkage; Paroxysmal kinesigenic choreoathetosis

Indexed keywords

CARBAMAZEPINE; MICROSATELLITE DNA;

EID: 77952481778     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2009.02929.x     Document Type: Article
Times cited : (8)

References (31)
  • 1
    • 0018073135 scopus 로고
    • Familial and acquired paroxysmal dyskinesias: A proposed classification with delineation of clinical features
    • Goodenough DJ, Fariello RG, Annis BL, Chun RWM. Familial and acquired paroxysmal dyskinesias: a proposed classification with delineation of clinical features. Arch Neurol 1978 35 : 827 831.
    • (1978) Arch Neurol , vol.35 , pp. 827-831
    • Goodenough, D.J.1    Fariello, R.G.2    Annis, B.L.3    Chun, R.W.M.4
  • 3
    • 0026001762 scopus 로고
    • Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks
    • Hirata K, Katayama S, Saito T, et al. Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. Epilepsia 1991 32 : 492 494.
    • (1991) Epilepsia , vol.32 , pp. 492-494
    • Hirata, K.1    Katayama, S.2    Saito, T.3
  • 4
    • 0029687992 scopus 로고    scopus 로고
    • Paroxysmal choreoathetosis
    • Marsden CD. Paroxysmal choreoathetosis. Adv Neurol 1996 70 : 467 470.
    • (1996) Adv Neurol , vol.70 , pp. 467-470
    • Marsden, C.D.1
  • 6
    • 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
  • 7
    • 18744402265 scopus 로고    scopus 로고
    • 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
  • 8
    • 47549087326 scopus 로고    scopus 로고
    • Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: A new subtype?
    • Zhou J, Li G, Chen C, Liu D, Xiao B. Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: a new subtype? Epilepsy Res 2008 80 : 171 179.
    • (2008) Epilepsy Res , vol.80 , pp. 171-179
    • Zhou, J.1    Li, G.2    Chen, C.3    Liu, D.4    Xiao, B.5
  • 9
    • 0033960165 scopus 로고    scopus 로고
    • A locus for paroxysmal kinesigenic dyskinesia map to human chromosome 16
    • Bennett LB, Roach S, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia map to human chromosome 16. Neurology 2000 54 : 125 130.
    • (2000) Neurology , vol.54 , pp. 125-130
    • Bennett, L.B.1    Roach, S.2    Bowcock, A.M.3
  • 10
    • 0036993633 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesia and generalized seizures: Clinical and genetic analysis in a Spanish pedigree
    • DOI 10.1055/s-2002-37079
    • Cuenca-Leon E, Cormand B, Thomson T, Macaya A. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree. Neuropediatrics 2002 33 : 288 293. (Pubitemid 36222139)
    • (2002) Neuropediatrics , vol.33 , Issue.6 , pp. 288-293
    • Cuenca-Leon, E.1    Cormand, B.2    Thomson, T.3    Macaya, A.4
  • 11
    • 0031786885 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy
    • DOI 10.1016/S0303-8467(98)00038-9, PII S0303846798000389
    • Tan LCS, Tan AKY, Tjia H. Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. Clin Neurol Neurosurg 1996 100 : 187 192. (Pubitemid 28479837)
    • (1998) Clinical Neurology and Neurosurgery , vol.100 , Issue.3 , pp. 187-192
    • Tan, L.C.S.1    Tan, A.K.Y.2    Tjia, H.3
  • 12
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16
    • Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997 61 : 889 898. (Pubitemid 27418464)
    • (1997) American Journal of Human Genetics , vol.61 , Issue.4 , pp. 889-898
    • Szepetowski, P.1    Rochette, J.2    Berquin, P.3    Piussan, C.4    Lathrop, G.M.5    Monaco, A.P.6
  • 14
    • 0031793063 scopus 로고    scopus 로고
    • Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): Confirmation of linkage to human chromosome 16p12-q12 in a Chinese family
    • DOI 10.1007/s004390050876
    • Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. Hum Genet 1998 103 : 608 612. (Pubitemid 28548484)
    • (1998) Human Genetics , vol.103 , Issue.5 , pp. 608-612
    • Lee, W.-L.1    Tay, A.2    Ong, H.-T.3    Goh, L.-M.4    Monaco, A.P.5    Szepetowski, P.6
  • 20
    • 0029041916 scopus 로고
    • An evaluation of FASTMAP with emphasis on fine-mapping
    • Müller B, Golla A. An evaluation of FASTMAP with emphasis on fine-mapping. Hum Hered 1995 45 : 199 205.
    • (1995) Hum Hered , vol.45 , pp. 199-205
    • Müller, B.1    Golla, A.2
  • 22
    • 0003408936 scopus 로고
    • 2nd edn. Baltimore: Johns Hopkins University Press
    • Ott J. Analysis of Human Genetic Linkage, 2nd edn. Baltimore: Johns Hopkins University Press, 1991.
    • (1991) Analysis of Human Genetic Linkage
    • Ott, J.1
  • 23
    • 0032976941 scopus 로고    scopus 로고
    • Familial paroxysmal kinesigenic choreoathetosis: An electrophysiologic and genotypic analysis
    • DOI 10.1111/j.1528-1157.1999.tb00801.x
    • Sadamatsu M, Masui A, Sakai T, Kunuqi H, Nanko S, Kato N. Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. Epilepsia 1999 40 : 942 949. (Pubitemid 29316049)
    • (1999) Epilepsia , vol.40 , Issue.7 , pp. 942-949
    • Sadamatsu, M.1    Masui, A.2    Sakai, T.3    Kunugi, H.4    Nanko, S.-I.5    Kato, N.6
  • 24
    • 18344384060 scopus 로고    scopus 로고
    • Refinement of the chromosome 16 locus for benign familial infantile convulsions
    • Callenbach PM, van den Boogerd EH, de Coo RF, et al. Refinement of the chromosome 16 locus for benign familial infantile convulsions. Clin Genet 2005 67 : 517 525.
    • (2005) Clin Genet , vol.67 , pp. 517-525
    • Callenbach, P.M.1    Van Den Boogerd, E.H.2    De Coo, R.F.3
  • 25
    • 57349104012 scopus 로고    scopus 로고
    • Genetics of infantile seizures with paroxysmal dyskinesia: The infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes
    • Rochette J, Roll P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. J Med Genet 2008 45 : 773 779.
    • (2008) J Med Genet , vol.45 , pp. 773-779
    • Rochette, J.1    Roll, P.2    Szepetowski, P.3
  • 26
    • 0036260284 scopus 로고    scopus 로고
    • The neuronal channelopathies
    • Kullmann DM. The neuronal channelopathies. Brain 2002 125 : 1177 1195.
    • (2002) Brain , vol.125 , pp. 1177-1195
    • Kullmann, D.M.1
  • 27
    • 19944419749 scopus 로고    scopus 로고
    • The sequence and analysis of duplication-rich human chromosome 16
    • Martin J, Han C, Gordon LA, et al. The sequence and analysis of duplication-rich human chromosome 16. Nature 2004 432 : 9889 9894.
    • (2004) Nature , vol.432 , pp. 9889-9894
    • Martin, J.1    Han, C.2    Gordon, L.A.3
  • 29
    • 34447329548 scopus 로고    scopus 로고
    • A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation
    • DOI 10.1002/ajmg.a.31837
    • Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet 2007 143 : 1462 1471. (Pubitemid 47051025)
    • (2007) American Journal of Medical Genetics, Part A , vol.143 , Issue.13 , pp. 1462-1471
    • Ghebranious, N.1    Giampietro, P.F.2    Wesbrook, F.P.3    Rezkalla, S.H.4
  • 30
    • 33749043929 scopus 로고    scopus 로고
    • Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    • Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006 52 : 103 121.
    • (2006) Neuron , vol.52 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.