메뉴 건너뛰기




Volumn 100, Issue , 2011, Pages 367-373

Paroxysmal choreodystonic disorders

Author keywords

[No Author keywords available]

Indexed keywords

BOOK; CLASSIFICATION; FEMALE; HUMAN; MALE; MOTOR DYSFUNCTION; PATHOPHYSIOLOGY;

EID: 79954469063     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52014-2.00028-8     Document Type: Book
Times cited : (8)

References (69)
  • 1
    • 0033960165 scopus 로고    scopus 로고
    • A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
    • Bennett L.B., Roach E.S., Bowcock A.M. 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
  • 2
    • 0032941645 scopus 로고    scopus 로고
    • The paroxysmal dyskinesias
    • Bhatia K.P. The paroxysmal dyskinesias. J Neurol 1999, 246:149-155.
    • (1999) J Neurol , vol.246 , pp. 149-155
    • Bhatia, K.P.1
  • 3
    • 0035040806 scopus 로고    scopus 로고
    • Familial (idiopathic) paroxysmal dyskinesias: an update
    • Bhatia K.P. Familial (idiopathic) paroxysmal dyskinesias: an update. Semin Neurol 2001, 21:69-74.
    • (2001) Semin Neurol , vol.21 , pp. 69-74
    • Bhatia, K.P.1
  • 4
    • 0030725727 scopus 로고    scopus 로고
    • Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature
    • Bhatia K.P., Soland V.L., Bhatt M.H., et al. Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord 1997, 12:1007-1012.
    • (1997) Mov Disord , vol.12 , pp. 1007-1012
    • Bhatia, K.P.1    Soland, V.L.2    Bhatt, M.H.3
  • 5
    • 0036651546 scopus 로고    scopus 로고
    • Secondary paroxysmal dyskinesias
    • Blakeley J., Jankovic J. Secondary paroxysmal dyskinesias. Mov Disord 2002, 17:726-734.
    • (2002) Mov Disord , vol.17 , pp. 726-734
    • Blakeley, J.1    Jankovic, J.2
  • 6
    • 0347662213 scopus 로고    scopus 로고
    • Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease
    • Bozi M., Bhatia K.P. Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease. Mov Disord 2003, 18:1545-1547.
    • (2003) Mov Disord , vol.18 , pp. 1545-1547
    • Bozi, M.1    Bhatia, K.P.2
  • 7
    • 0023808493 scopus 로고
    • Paroxysmal non-kinesigenic dystonia
    • Bressman S.B., Fahn S., Burke R.E. Paroxysmal non-kinesigenic dystonia. Adv Neurol 1988, 50:403-413.
    • (1988) Adv Neurol , vol.50 , pp. 403-413
    • Bressman, S.B.1    Fahn, S.2    Burke, R.E.3
  • 8
    • 19944402859 scopus 로고    scopus 로고
    • Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
    • Bruno M.K., 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
  • 9
    • 12144288195 scopus 로고    scopus 로고
    • Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease
    • Bruno M.K., Ravina B., Garraux G., et al. Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord 2004, 19:228-230.
    • (2004) Mov Disord , vol.19 , pp. 228-230
    • Bruno, M.K.1    Ravina, B.2    Garraux, G.3
  • 10
    • 34249086525 scopus 로고    scopus 로고
    • Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
    • Bruno M.K., Lee H.Y., Auburger G.W., et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007, 68:1782-1789.
    • (2007) Neurology , vol.68 , pp. 1782-1789
    • Bruno, M.K.1    Lee, H.Y.2    Auburger, G.W.3
  • 11
    • 0026049177 scopus 로고
    • Thalamic demyelination and paroxysmal dystonia in multiple sclerosis
    • Burguera J.A., Catala J., Casanova B. Thalamic demyelination and paroxysmal dystonia in multiple sclerosis. Mov Disord 1991, 6:379-381.
    • (1991) Mov Disord , vol.6 , pp. 379-381
    • Burguera, J.A.1    Catala, J.2    Casanova, B.3
  • 12
    • 20144389932 scopus 로고    scopus 로고
    • Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds
    • Chen D.H., Matsushita M., Rainier S., et al. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol 2005, 62:597-600.
    • (2005) Arch Neurol , vol.62 , pp. 597-600
    • Chen, D.H.1    Matsushita, M.2    Rainier, S.3
  • 14
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: clinical features and classification
    • Demirkiran M., Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995, 38:571-579.
    • (1995) Ann Neurol , vol.38 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 16
    • 22844445484 scopus 로고    scopus 로고
    • Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
    • Du W., Bautista J.F., Yang H., et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005, 37:733-738.
    • (2005) Nat Genet , vol.37 , pp. 733-738
    • Du, W.1    Bautista, J.F.2    Yang, H.3
  • 18
    • 0036359008 scopus 로고    scopus 로고
    • The early history of paroxysmal dyskinesias
    • Fahn S. The early history of paroxysmal dyskinesias. Adv Neurol 2002, 89:377-385.
    • (2002) Adv Neurol , vol.89 , pp. 377-385
    • Fahn, S.1
  • 19
    • 79954552172 scopus 로고    scopus 로고
    • Principles and Practice of Movement Disorders
    • Churchill Livingstone, Philadelphia.
    • Fahn S., Jankovic J. Principles and Practice of Movement Disorders. The Paroxysmal Dyskinesias 2007, Churchill Livingstone, Philadelphia, pp. 553-575.
    • (2007) The Paroxysmal Dyskinesias , pp. 553-575
    • Fahn, S.1    Jankovic, J.2
  • 20
    • 0029896267 scopus 로고    scopus 로고
    • A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q
    • Fouad G.T., Servidei S., Durcan S., et al. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 1996, 59:135-139.
    • (1996) Am J Hum Genet , vol.59 , pp. 135-139
    • Fouad, G.T.1    Servidei, S.2    Durcan, S.3
  • 21
    • 0020575522 scopus 로고
    • Paroxysmal kinesigenic choreoathetosis and abnormal contingent negative variation
    • Franssen H., Fortgens C., Wattendorff A.R., et al. Paroxysmal kinesigenic choreoathetosis and abnormal contingent negative variation. A case report. Arch Neurol 1983, 40:381-385.
    • (1983) A case report. Arch Neurol , vol.40 , pp. 381-385
    • Franssen, H.1    Fortgens, C.2    Wattendorff, A.R.3
  • 22
    • 0029874724 scopus 로고    scopus 로고
    • Medullary lesions and unusual bilateral paroxysmal dystonia in multiple sclerosis
    • Gatto E.M., Zurru M.C., Rugilo C. Medullary lesions and unusual bilateral paroxysmal dystonia in multiple sclerosis. Neurology 1996, 46:847-848.
    • (1996) Neurology , vol.46 , pp. 847-848
    • Gatto, E.M.1    Zurru, M.C.2    Rugilo, C.3
  • 23
    • 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., et al. 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
  • 24
    • 0036359907 scopus 로고    scopus 로고
    • Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis
    • Guerrini R., Parmeggiani L., Casari G. Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis. Adv Neurol 2002, 89:433-441.
    • (2002) Adv Neurol , vol.89 , pp. 433-441
    • Guerrini, R.1    Parmeggiani, L.2    Casari, G.3
  • 25
    • 33646792971 scopus 로고    scopus 로고
    • Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia
    • Hempelmann A., Kumar S., Muralitharan S., et al. Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. Neurosci Lett 2006, 402:118-120.
    • (2006) Neurosci Lett , vol.402 , pp. 118-120
    • Hempelmann, A.1    Kumar, S.2    Muralitharan, S.3
  • 26
    • 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
  • 27
    • 0033044546 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis: a report of 26 patients
    • Houser M.K., Soland V.L., Bhatia K.P., et al. Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. J Neurol 1999, 246:120-126.
    • (1999) J Neurol , vol.246 , pp. 120-126
    • Houser, M.K.1    Soland, V.L.2    Bhatia, K.P.3
  • 28
    • 0013920895 scopus 로고
    • An uncommon seizure disorder: familial paroxysmal choreoathetosis
    • Hudgins R.L., Corbin K.B. 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
  • 29
    • 0031767257 scopus 로고    scopus 로고
    • Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia
    • Hwang W.J., Lu C.S., Tsai J.J. Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia. Acta Neurol Scand 1998, 98:340-345.
    • (1998) Acta Neurol Scand , vol.98 , pp. 340-345
    • Hwang, W.J.1    Lu, C.S.2    Tsai, J.J.3
  • 30
    • 0036359629 scopus 로고    scopus 로고
    • Classification of paroxysmal dyskinesias and ataxias
    • Jankovic J., Demirkiran M. Classification of paroxysmal dyskinesias and ataxias. Adv Neurol 2002, 89:387-400.
    • (2002) Adv Neurol , vol.89 , pp. 387-400
    • Jankovic, J.1    Demirkiran, M.2
  • 31
    • 34249108838 scopus 로고    scopus 로고
    • New family with paroxysmal exercise-induced dystonia and epilepsy
    • Kamm C., Mayer P., Sharma M., et al. New family with paroxysmal exercise-induced dystonia and epilepsy. Mov Disord 2007, 22:873-877.
    • (2007) Mov Disord , vol.22 , pp. 873-877
    • Kamm, C.1    Mayer, P.2    Sharma, M.3
  • 32
    • 30744462049 scopus 로고    scopus 로고
    • Corticospinal disinhibition in paroxysmal kinesigenic dyskinesia
    • Kang S.Y., Sohn Y.H., Kim H.S., et al. Corticospinal disinhibition in paroxysmal kinesigenic dyskinesia. Clin Neurophysiol 2006, 117:57-60.
    • (2006) Clin Neurophysiol , vol.117 , pp. 57-60
    • Kang, S.Y.1    Sohn, Y.H.2    Kim, H.S.3
  • 33
    • 0014109480 scopus 로고
    • Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied
    • Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 1967, 17:680-690.
    • (1967) Neurology , vol.17 , pp. 680-690
    • Kertesz, A.1
  • 34
    • 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
    • Kikuchi T., Nomura M., Tomita H., et al. 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 2007, 52:334-341.
    • (2007) J Hum Genet , vol.52 , pp. 334-341
    • Kikuchi, T.1    Nomura, M.2    Tomita, H.3
  • 36
    • 0031964563 scopus 로고    scopus 로고
    • Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia
    • Kluge A., Kettner B., Zschenderlein R., et al. Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia. Mov Disord 1998, 13:125-134.
    • (1998) Mov Disord , vol.13 , pp. 125-134
    • Kluge, A.1    Kettner, B.2    Zschenderlein, R.3
  • 37
    • 0002043533 scopus 로고
    • Sporadic and familial varieties of tonic seizures
    • Lance J.W. Sporadic and familial varieties of tonic seizures. J Neurol Neurosurg Psychiatry 1963, 26:51-59.
    • (1963) J Neurol Neurosurg Psychiatry , vol.26 , pp. 51-59
    • Lance, J.W.1
  • 38
    • 0017616188 scopus 로고
    • Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes
    • Lance J.W. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977, 2:285-293.
    • (1977) Ann Neurol , vol.2 , pp. 285-293
    • Lance, J.W.1
  • 39
    • 0021799204 scopus 로고
    • Familial paroxysmal hypnogenic dystonia
    • Lee B.I., Lesser R.P., Pippenger C.E., et al. Familial paroxysmal hypnogenic dystonia. Neurology 1985, 35:1357-1360.
    • (1985) Neurology , vol.35 , pp. 1357-1360
    • Lee, B.I.1    Lesser, R.P.2    Pippenger, C.E.3
  • 40
    • 19944407549 scopus 로고    scopus 로고
    • The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
    • Lee H.Y., Xu Y., Huang Y., et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004, 13:3161-3170.
    • (2004) Hum Mol Genet , vol.13 , pp. 3161-3170
    • Lee, H.Y.1    Xu, Y.2    Huang, Y.3
  • 41
    • 0032840416 scopus 로고    scopus 로고
    • Reciprocal inhibition between the forearm muscles in patients with paroxysmal kinesigenic dyskinesia
    • Lee M.S., Kim W.C., Lyoo C.H., et al. Reciprocal inhibition between the forearm muscles in patients with paroxysmal kinesigenic dyskinesia. J Neurol Sci 1999, 168:57-61.
    • (1999) J Neurol Sci , vol.168 , pp. 57-61
    • Lee, M.S.1    Kim, W.C.2    Lyoo, C.H.3
  • 42
    • 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 W.L., Tay A., Ong H.T., et al. 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
  • 43
    • 0038692125 scopus 로고    scopus 로고
    • Post-traumatic paroxysmal exercise-induced dystonia: case report and review of the literature
    • Lim E.C., Wong Y.S. Post-traumatic paroxysmal exercise-induced dystonia: case report and review of the literature. Parkinsonism Relat Disord 2003, 9:371-373.
    • (2003) Parkinsonism Relat Disord , vol.9 , pp. 371-373
    • Lim, E.C.1    Wong, Y.S.2
  • 44
    • 0033186424 scopus 로고    scopus 로고
    • Paroxysmal non-kinesigenic dyskinesia: pathophysiological investigations
    • Lombroso C.T., Fischman A. Paroxysmal non-kinesigenic dyskinesia: pathophysiological investigations. Epileptic Disord 1999, 1:187-193.
    • (1999) Epileptic Disord , vol.1 , pp. 187-193
    • Lombroso, C.T.1    Fischman, A.2
  • 45
    • 0038147396 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesias
    • Lotze T., Jankovic J. Paroxysmal kinesigenic dyskinesias. Semin Pediatr Neurol 2003, 10:68-79.
    • (2003) Semin Pediatr Neurol , vol.10 , pp. 68-79
    • Lotze, T.1    Jankovic, J.2
  • 46
    • 0019503795 scopus 로고
    • Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?
    • Lugaresi E., Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?. Sleep 1981, 4:129-138.
    • (1981) Sleep , vol.4 , pp. 129-138
    • Lugaresi, E.1    Cirignotta, F.2
  • 47
    • 34548857075 scopus 로고    scopus 로고
    • Moyamoya disease presenting with paroxysmal exercise-induced dyskinesia
    • Lyoo C.H., Kim D.J., Chang H., et al. Moyamoya disease presenting with paroxysmal exercise-induced dyskinesia. Parkinsonism Relat Disord 2007, 13:446-448.
    • (2007) Parkinsonism Relat Disord , vol.13 , pp. 446-448
    • Lyoo, C.H.1    Kim, D.J.2    Chang, H.3
  • 48
    • 0034208616 scopus 로고    scopus 로고
    • Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder
    • Margari L., Perniola T., Illiceto G., et al. Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. Neurol Sci 2000, 21:165-172.
    • (2000) Neurol Sci , vol.21 , pp. 165-172
    • Margari, L.1    Perniola, T.2    Illiceto, G.3
  • 49
    • 36348960143 scopus 로고    scopus 로고
    • Paroxysmal dyskinesias
    • Mink J.W. Paroxysmal dyskinesias. Curr Opin Pediatr 2007, 19:652-656.
    • (2007) Curr Opin Pediatr , vol.19 , pp. 652-656
    • Mink, J.W.1
  • 50
    • 13544273850 scopus 로고    scopus 로고
    • Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia
    • Mir P., Huang Y.Z., Gilio F., et al. Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia. Brain 2005, 128:291-299.
    • (2005) Brain , vol.128 , pp. 291-299
    • Mir, P.1    Huang, Y.Z.2    Gilio, F.3
  • 51
    • 0000738544 scopus 로고
    • Familial paroxysmal choreoathetosis
    • Mount L., Reback S. Familial paroxysmal choreoathetosis. Arch Neurol Psychiatr 1940, 44:841-847.
    • (1940) Arch Neurol Psychiatr , vol.44 , pp. 841-847
    • Mount, L.1    Reback, S.2
  • 52
    • 0034059078 scopus 로고    scopus 로고
    • A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study
    • Munchau A., Valente E.M., Shahidi G.A., et al. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. J Neurol Neurosurg Psychiatry 2000, 68:609-614.
    • (2000) J Neurol Neurosurg Psychiatry , vol.68 , pp. 609-614
    • Munchau, A.1    Valente, E.M.2    Shahidi, G.A.3
  • 53
    • 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
  • 54
    • 3142721995 scopus 로고    scopus 로고
    • Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
    • Rainier S., Thomas D., Tokarz D., et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 2004, 61:1025-1029.
    • (2004) Arch Neurol , vol.61 , pp. 1025-1029
    • Rainier, S.1    Thomas, D.2    Tokarz, D.3
  • 56
    • 0025738689 scopus 로고
    • Paroxysmal kinesigenic choreoathetosis as presenting symptom of multiple sclerosis
    • Roos R.A., Wintzen A.R., Vielvoye G., et al. Paroxysmal kinesigenic choreoathetosis as presenting symptom of multiple sclerosis. J Neurol Neurosurg Psychiatry 1991, 54:657-658.
    • (1991) J Neurol Neurosurg Psychiatry , vol.54 , pp. 657-658
    • Roos, R.A.1    Wintzen, A.R.2    Vielvoye, G.3
  • 58
    • 18744402265 scopus 로고    scopus 로고
    • Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene
    • Spacey S.D., Valente E.M., Wali G.M., 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
  • 59
    • 0001644611 scopus 로고
    • Subcortical epilepsy
    • Spiller W.G. Subcortical epilepsy. Brain 1927, 50:171-187.
    • (1927) Brain , vol.50 , pp. 171-187
    • Spiller, W.G.1
  • 60
    • 24344432003 scopus 로고
    • Le type spasmodique tetanoide et tetaniforme de l'encephalite epidemique remarques sur l'epilepsie " extra-pyramidale"
    • Sterling W. Le type spasmodique tetanoide et tetaniforme de l'encephalite epidemique remarques sur l'epilepsie " extra-pyramidale" Rev Neurol (Paris) 1924, 2:484-492.
    • (1924) Rev Neurol (Paris) , vol.2 , pp. 484-492
    • Sterling, W.1
  • 61
    • 46849102968 scopus 로고    scopus 로고
    • Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
    • Suls A., Dedeken P., Goffin K., et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008, 131:1831-1844.
    • (2008) Brain , vol.131 , pp. 1831-1844
    • Suls, A.1    Dedeken, P.2    Goffin, K.3
  • 62
    • 0033868150 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies
    • Swoboda K.J., Soong B., 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.2    McKenna, C.3
  • 63
    • 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., et al. 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    Rochette, J.2    Berquin, P.3
  • 64
    • 0025120895 scopus 로고
    • Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures
    • Tinuper P., Cerullo A., Cirignotta F., et al. Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 1990, 31:549-556.
    • (1990) Epilepsia , vol.31 , pp. 549-556
    • Tinuper, P.1    Cerullo, A.2    Cirignotta, F.3
  • 65
    • 0033361838 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
    • Tomita H., Nagamitsu S., Wakui K., et al. Paroxysmal kinesigenic choreoathetosis locus maps 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    Nagamitsu, S.2    Wakui, K.3
  • 66
    • 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 E.M., Spacey S.D., Wali G.M., 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
  • 67
    • 45749108564 scopus 로고    scopus 로고
    • GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
    • Weber Y.G., Storch A., Wuttke T.V., et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008, 118:2157-2168.
    • (2008) J Clin Invest , vol.118 , pp. 2157-2168
    • Weber, Y.G.1    Storch, A.2    Wuttke, T.V.3
  • 68
    • 0007964951 scopus 로고
    • Familial paroxysmal chorea-athetosis
    • Williams J., Stevens H. Familial paroxysmal chorea-athetosis. Pediatrics 1963, 31:656-659.
    • (1963) Pediatrics , vol.31 , pp. 656-659
    • Williams, J.1    Stevens, H.2
  • 69
    • 36148950544 scopus 로고    scopus 로고
    • Subtraction brain SPECT imaging in a patient with paroxysmal exercise-induced dystonia: role of the primary somatosensory cortex
    • Yoon J.H., Lee P.H., Yoon S.N. Subtraction brain SPECT imaging in a patient with paroxysmal exercise-induced dystonia: role of the primary somatosensory cortex. Arch Neurol 2007, 64:1652-1656.
    • (2007) Arch Neurol , vol.64 , pp. 1652-1656
    • Yoon, J.H.1    Lee, P.H.2    Yoon, S.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.