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Volumn 17, Issue 4, 2002, Pages 717-725

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Author keywords

Neurogenetics; Paroxysmal kinesigenic dyskinesia; Seizures

Indexed keywords

ARTICLE; ATHETOSIS; BALLISTICS; CHROMOSOME 16; CLINICAL FEATURE; DISEASE DURATION; DYSKINESIA; DYSTONIA; GENE; GENETIC HETEROGENEITY; GESTURE; HUMAN; NERVOUS SYSTEM DEVELOPMENT; PRIORITY JOURNAL; SEIZURE; TIME SERIES ANALYSIS; UNITED KINGDOM; ADOLESCENT; ADULT; CHILD; CHOREA; CHROMOSOME ABERRATION; CHROMOSOME MAP; DOMINANT GENE; FEMALE; GENETIC LINKAGE; GENETIC MARKER; GENETICS; INFANT; INFANTILE SPASM; MALE; MIDDLE AGED; MOTOR ACTIVITY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 18744402265     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10126     Document Type: Article
Times cited : (81)

References (33)
  • 1
    • 0001504349 scopus 로고
    • The paroxysmal dyskinesias
    • Marsden CD, Fahn S, editors. Oxford: Butterworth-Heinemann
    • Fahn S. The paroxysmal dyskinesias. In: Marsden CD, Fahn S, editors. Movement disorders. Oxford: Butterworth-Heinemann; 1994. p 310-345.
    • (1994) Movement Disorders , pp. 310-345
    • Fahn, S.1
  • 3
    • 0032976941 scopus 로고    scopus 로고
    • Familial paroxysmal kinesigenic choreoathetosis: An electrophysiologic and genotypic analysis
    • Sadamatsu M, Masui A, Sakai T, Kunugi H, Nanko SI, Kato N. Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. Epilepsia 1999;40:942-949.
    • (1999) Epilepsia , vol.40 , pp. 942-949
    • Sadamatsu, M.1    Masui, A.2    Sakai, T.3    Kunugi, H.4    Nanko, S.I.5    Kato, N.6
  • 4
    • 0033435219 scopus 로고    scopus 로고
    • Multicenter study of paroxysmal dyskinesias in Japan: Clinical and pedigree analysis
    • Nagamitsu S, Matsuishi T, Hashimoto K, et al. Multicenter study of paroxysmal dyskinesias in Japan: clinical and pedigree analysis. Mov Disord 1999;14:658-663.
    • (1999) Mov Disord , vol.14 , pp. 658-663
    • Nagamitsu, S.1    Matsuishi, T.2    Hashimoto, K.3
  • 5
    • 0031786885 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy
    • Tan LC, Tan AK, Tjia H. Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. Clin Neurol Neurosurg 1998;100:187-192.
    • (1998) Clin Neurol Neurosurg , vol.100 , pp. 187-192
    • Tan, L.C.1    Tan, A.K.2    Tjia, H.3
  • 6
    • 0029929412 scopus 로고    scopus 로고
    • Epilepsy or kinesiogenic choreoathetosis?
    • Beaumanoir A, Mira L, Van Lierde A. Epilepsy or kinesiogenic choreoathetosis? Brain Dev 1996;18:139-141.
    • (1996) Brain Dev , vol.18 , pp. 139-141
    • Beaumanoir, A.1    Mira, L.2    Van Lierde, A.3
  • 7
    • 34249756288 scopus 로고
    • Paroxysmal choreoathetosis: An epileptic or non-epileptic disorder?
    • Lombroso CT. Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? Ital J Neurol Sci 1995;16:271-277.
    • (1995) Ital J Neurol Sci , vol.16 , pp. 271-277
    • Lombroso, C.T.1
  • 9
    • 0014386944 scopus 로고
    • Hereditary kinaesthetic reflex epilepsy: Report of five pedigrees with seizures induce by movement and review of literature
    • Fukuyama Y, Okada R. Hereditary kinaesthetic reflex epilepsy: report of five pedigrees with seizures induce by movement and review of literature. Proc Aust Assoc Neurol 1968;5:583-587.
    • (1968) Proc Aust Assoc Neurol , vol.5 , pp. 583-587
    • Fukuyama, Y.1    Okada, R.2
  • 10
    • 0013899330 scopus 로고
    • Paroxysmal choreoathetosis: A form of reflex epilepsy
    • Stevens HF. Paroxysmal choreoathetosis: a form of reflex epilepsy. Arch Neurol 1966;14:415-420.
    • (1966) Arch Neurol , vol.14 , pp. 415-420
    • Stevens, H.F.1
  • 11
    • 0013920895 scopus 로고
    • An uncommon seizure disorder: Familial paroxysmal choreoathetosis
    • Hudgins RL, Corbin KB. An uncommon seizure disorder: familial paroxysmal choreoathetosis. Brain 1966;89:199-204.
    • (1966) Brain , vol.89 , pp. 199-204
    • Hudgins, R.L.1    Corbin, K.B.2
  • 13
    • 0014109480 scopus 로고
    • Paroxysmal kinesiogenic choreoathetosis
    • Kertesz A. Paroxysmal kinesiogenic choreoathetosis. Neurology 1967;17:680-690.
    • (1967) Neurology , vol.17 , pp. 680-690
    • Kertesz, A.1
  • 14
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: Clinical features and classification
    • Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;4:571-579.
    • (1995) Ann Neurol , vol.4 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 15
    • 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, Rochett 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.
    • (1997) Am J Hum Genet , vol.61 , pp. 889-898
    • Szepetowski, P.1    Rochett, J.2    Berquin, P.3    Piussan, C.4    Lathrop, G.M.5    Monaco, A.P.6
  • 16
    • 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
    • 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.
    • (1998) Hum Genet , vol.103 , 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
  • 17
    • 0033361838 scopus 로고    scopus 로고
    • A gene for paroxysmal kinesigenic choreoathetosis mapped to chromosome 16p11.2-q12.1
    • Tomita H, Yamada K, Niikawa, et al. A gene for paroxysmal kinesigenic choreoathetosis mapped to chromosome 16p11.2-q12.1. Am J Hum Genet 1999;65:1688-1697.
    • (1999) Am J Hum Genet , vol.65 , pp. 1688-1697
    • Tomita, H.1    Yamada, K.2    Niikawa3
  • 18
    • 0033960165 scopus 로고    scopus 로고
    • A locus for paroxysmal kinesigenic. Dyskinesia maps to human chromosome 16
    • Bennett LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic. Dyskinesia maps to human chromosome 16. Neurology 2000;54:125-130.
    • (2000) Neurology , vol.54 , pp. 125-130
    • Bennett, L.B.1    Roach, E.S.2    Bowcock, A.M.3
  • 19
    • 0033868150 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies
    • Swoboda KJ, Soong BW, McKenna C, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. Neurology 2000;55:224-230.
    • (2000) Neurology , vol.55 , pp. 224-230
    • Swoboda, K.J.1    Soong, B.W.2    McKenna, C.3
  • 20
    • 0033775093 scopus 로고    scopus 로고
    • A second paroxysmal kinesigenic choreoathetosis locus maps to 16q13-q22.1: Is there a family of genes which give rise to paroxysmal disorders on human chromosome 16?
    • Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB. A second paroxysmal kinesigenic choreoathetosis locus maps to 16q13-q22.1: is there 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    Bhatia, K.P.4    Dixon, P.H.5    Wood, N.W.6    Davis, M.B.7
  • 21
    • 0033055535 scopus 로고    scopus 로고
    • Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2
    • Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999;45:344-352.
    • (1999) Ann Neurol , vol.45 , pp. 344-352
    • Guerrini, R.1    Bonanni, P.2    Nardocci, N.3    Parmeggiani, L.4    Piccirilli, M.5    De Fusco, M.6    Aridon, P.7    Ballabio, A.8    Carrozzo, R.9    Casari, G.10
  • 22
    • 0031784486 scopus 로고    scopus 로고
    • Ion channel and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders
    • Hanna MG, Wood NW, Kullmann D. Ion channel and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders. J Neurol Neurosurg Psychiatry 1998;65:427-341.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 427-1341
    • Hanna, M.G.1    Wood, N.W.2    Kullmann, D.3
  • 23
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 24
    • 0021344005 scopus 로고
    • Easy calculations of LOD scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-465.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 28
    • 17344372328 scopus 로고    scopus 로고
    • A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
    • Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-29.
    • (1998) Nat Genet , vol.18 , pp. 25-29
    • Singh, N.A.1    Charlier, C.2    Stauffer, D.3
  • 30
    • 20244371136 scopus 로고    scopus 로고
    • Genome duplications and other features in 12 Mb of DNA sequence from Human Chromosome 16p and 16q
    • Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T. Genome duplications and other features in 12 Mb of DNA sequence from Human Chromosome 16p and 16q. Genomics 1999;6:295-308.
    • (1999) Genomics , vol.6 , pp. 295-308
    • Loftus, B.J.1    Kim, U.J.2    Sneddon, V.P.3    Kalush, F.4    Brandon, R.5    Fuhrmann, J.6    Mason, T.7
  • 33
    • 0029118377 scopus 로고
    • Integration of transcript and genetic maps of chromosome 16 at near- 1Mb resolution: Demonstration of a "hot spot" for recombination at 16p12
    • Callen DF, Lane SA, Lowenstein M, et al. Integration of transcript and genetic maps of chromosome 16 at near- 1Mb resolution: demonstration of a "hot spot" for recombination at 16p12. Genomics 1995;29:503-511.
    • (1995) Genomics , vol.29 , pp. 503-511
    • Callen, D.F.1    Lane, S.A.2    Lowenstein, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.