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Volumn 165, Issue 2, 2009, Pages 164-169

Paroxysmal kinesigenic dyskinesia: A channelopathy? Study of 19 cases;Les dyskinésies paroxystiques kinésigéniques : Une « canalopathie » ? Étude de 19 cas

Author keywords

Channelopathy; Choreoathetosis; Infantile convulsions; Paroxysmal kinesigenic dyskinesia

Indexed keywords

ACETAZOLAMIDE; CARBAMAZEPINE; 4 AMINOBUTYRIC ACID; AMINE; ANTICONVULSIVE AGENT; CYCLOHEXANECARBOXYLIC ACID DERIVATIVE; GABAPENTIN;

EID: 65249159250     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2008.08.009     Document Type: Article
Times cited : (13)

References (22)
  • 1
    • 0030027095 scopus 로고    scopus 로고
    • A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
    • G. Auburger, T. Ratzlaff, and A. Lunkes A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197 Genomics 31 1996 90 94
    • (1996) Genomics , vol.31 , pp. 90-94
    • Auburger, G.1    Ratzlaff, T.2    Lunkes, A.3
  • 2
    • 0032941645 scopus 로고    scopus 로고
    • The paroxysmal dyskinesias
    • K.P. Bhatia The paroxysmal dyskinesias J Neurol 246 1999 149 155
    • (1999) J Neurol , vol.246 , pp. 149-155
    • Bhatia, K.P.1
  • 3
    • 19944402859 scopus 로고    scopus 로고
    • Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria
    • M.K. Bruno, M. Hallett, and K. Gwinn-Hardy Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria Neurology 63 2004 2280 2287
    • (2004) Neurology , vol.63 , pp. 2280-2287
    • Bruno, M.K.1    Hallett, M.2    Gwinn-Hardy, K.3
  • 4
    • 34249086525 scopus 로고    scopus 로고
    • Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
    • M.K. Bruno, H.Y. Lee, and G.W. Auburger Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia Neurology 68 2007 1782 1789
    • (2007) Neurology , vol.68 , pp. 1782-1789
    • Bruno, M.K.1    Lee, H.Y.2    Auburger, G.W.3
  • 5
    • 0035097981 scopus 로고    scopus 로고
    • Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
    • R. Caraballo, S. Pavek, and A. Lemainque Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome Am J Hum Genet 68 2001 788 794
    • (2001) Am J Hum Genet , vol.68 , pp. 788-794
    • Caraballo, R.1    Pavek, S.2    Lemainque, A.3
  • 7
    • 0036993633 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesia and generalized seizures: Clinical and genetic analysis in a Spanish pedigree
    • E. Cuenca-Leon, B. Cormand, T. Thomson, and A. Macaya Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree Neuropediatrics 33 2002 288 293
    • (2002) Neuropediatrics , vol.33 , pp. 288-293
    • Cuenca-Leon, E.1    Cormand, B.2    Thomson, T.3    MacAya, A.4
  • 9
    • 2542426562 scopus 로고    scopus 로고
    • Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family
    • E. Demir, J.F. Prud'homme, and M. Topu Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family Pediatr Neurol 30 2004 349 353
    • (2004) Pediatr Neurol , vol.30 , pp. 349-353
    • Demir, E.1    Prud'Homme, J.F.2    Topu, M.3
  • 10
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: Clinical features and classification
    • M. Demirkiran, and J. Jankovic Paroxysmal dyskinesias: clinical features and classification Ann Neurol 38 1995 571 579
    • (1995) Ann Neurol , vol.38 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 11
    • 22844445484 scopus 로고    scopus 로고
    • Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
    • W. Du, J.F. Bautista, and H. Yang Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder Nat Genet 37 2005 733 738
    • (2005) Nat Genet , vol.37 , pp. 733-738
    • Du, W.1    Bautista, J.F.2    Yang, H.3
  • 12
    • 42949114441 scopus 로고    scopus 로고
    • Localization and mutation detection for paroxysmal kinesigenic choreoathetosis
    • T. Du, B. Feng, and X. Wang Localization and mutation detection for paroxysmal kinesigenic choreoathetosis J Mol Neurosci 34 2008 101 107
    • (2008) J Mol Neurosci , vol.34 , pp. 101-107
    • Du, T.1    Feng, B.2    Wang, X.3
  • 13
    • 0036077774 scopus 로고    scopus 로고
    • Benign paroxysmal torticollis of infancy: Four new cases and linkage to CACNA1A mutation
    • N.J. Giffin, S. Benton, and P.J. Goadsby Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation Dev Med Child Neurol 44 2002 490 493
    • (2002) Dev Med Child Neurol , vol.44 , pp. 490-493
    • Giffin, N.J.1    Benton, S.2    Goadsby, P.J.3
  • 14
    • 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
    • T. Kikuchi, M. Nomura, and H. Tomita 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 52 2007 334 341
    • (2007) J Hum Genet , vol.52 , pp. 334-341
    • Kikuchi, T.1    Nomura, M.2    Tomita, H.3
  • 15
    • 0035070844 scopus 로고    scopus 로고
    • Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis
    • C.H. Ko, C.K. Kong, W.T. Ngai, and K.M. Ma Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis Pediatr Neurol 24 2001 225 227
    • (2001) Pediatr Neurol , vol.24 , pp. 225-227
    • Ko, C.H.1    Kong, C.K.2    Ngai, W.T.3    Ma, K.M.4
  • 16
    • 0038147396 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesias
    • T. Lotze, and J. Jankovic Paroxysmal kinesigenic dyskinesias Semin Pediatr Neurol 10 2003 68 79
    • (2003) Semin Pediatr Neurol , vol.10 , pp. 68-79
    • Lotze, T.1    Jankovic, J.2
  • 17
    • 0033435219 scopus 로고    scopus 로고
    • Multicenter study of paroxysmal dyskinesias in Japan - Clinical and pedigree analysis
    • S. Nagamitsu, T. Matsuishi, and K. Hashimoto Multicenter study of paroxysmal dyskinesias in Japan - clinical and pedigree analysis Mov Disord 14 1999 658 663
    • (1999) Mov Disord , vol.14 , pp. 658-663
    • Nagamitsu, S.1    Matsuishi, T.2    Hashimoto, K.3
  • 18
    • 26444503175 scopus 로고    scopus 로고
    • Classification conundrums in paroxysmal dyskinesias: A new subtype or variations on classic themes?
    • M.H. Pourfar, R. Guerrini, D. Parain, and S.J. Frucht Classification conundrums in paroxysmal dyskinesias: a new subtype or variations on classic themes? Mov Disord 20 2005 1047 1051
    • (2005) Mov Disord , vol.20 , pp. 1047-1051
    • Pourfar, M.H.1    Guerrini, R.2    Parain, D.3    Frucht, S.J.4
  • 20
    • 18744402265 scopus 로고    scopus 로고
    • Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
    • S.D. Spacey, E.M. Valente, and G.M. Wali Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene Mov Disord 17 2002 717 725
    • (2002) Mov Disord , vol.17 , pp. 717-725
    • Spacey, S.D.1    Valente, E.M.2    Wali, G.M.3
  • 22
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16
    • P. Szepetowski, J. Rochette, P. Berquin, C. Piussan, G.M. Lathrop, and A.P. Monaco Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 Am J Hum Genet 61 1997 889 898
    • (1997) Am J Hum Genet , vol.61 , pp. 889-898
    • Szepetowski, P.1    Rochette, J.2    Berquin, P.3    Piussan, C.4    Lathrop, G.M.5    Monaco, A.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.