메뉴 건너뛰기




Volumn 63, Issue 1, 2006, Pages 122-128

Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; CLONAZEPAM; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

EID: 30344466930     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.1.122     Document Type: Article
Times cited : (85)

References (51)
  • 1
    • 0028969404 scopus 로고
    • Angelman syndrome: Consensus for diagnostic criteria: Angelman Syndrome Foundation
    • Williams CA, Angelman H, Clayton-Smith J, et al. Angelman syndrome: consensus for diagnostic criteria: Angelman Syndrome Foundation. Am J Med Genet. 1995;56:237-238.
    • (1995) Am J Med Genet , vol.56 , pp. 237-238
    • Williams, C.A.1    Angelman, H.2    Clayton-Smith, J.3
  • 2
    • 0023617404 scopus 로고
    • Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance
    • Kaplan LC, Wharton R, Elias E, Mandell F, Donlon T, Latt SA. Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. Am J Med Genet. 1987;28:45-53.
    • (1987) Am J Med Genet , vol.28 , pp. 45-53
    • Kaplan, L.C.1    Wharton, R.2    Elias, E.3    Mandell, F.4    Donlon, T.5    Latt, S.A.6
  • 3
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet. 1989;32:285-290.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.1    Nicholls, R.D.2    Magenis, R.E.3    Graham Jr., J.M.4    Lalande, M.5    Latt, S.A.6
  • 5
    • 0026802927 scopus 로고
    • Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome
    • Nicholls RD, Pai GS, Gottlieb W, Cantu ES. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol. 1992;32:512-518.
    • (1992) Ann Neurol , vol.32 , pp. 512-518
    • Nicholls, R.D.1    Pai, G.S.2    Gottlieb, W.3    Cantu, E.S.4
  • 6
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • Buiting K, Saitoh S, Gross S, et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995;9:395-400.
    • (1995) Nat Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3
  • 7
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet. 1997;15:70-73.
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 8
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet. 1997;15:74-77.
    • (1997) Nat Genet , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3
  • 9
    • 0024394434 scopus 로고
    • Incidence of 15q deletions in the Angelman syndrome: A survey of twelve affected persons
    • Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantu ES. Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. Am J Med Genet. 1989;32:339-345.
    • (1989) Am J Med Genet , vol.32 , pp. 339-345
    • Williams, C.A.1    Gray, B.A.2    Hendrickson, J.E.3    Stone, J.W.4    Cantu, E.S.5
  • 10
    • 0026351327 scopus 로고
    • Chromosome 15 uniparental disomy is not frequent in Angelman syndrome
    • Engel E. Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet. 1991;49:459-460.
    • (1991) Am J Hum Genet , vol.49 , pp. 459-460
    • Engel, E.1
  • 11
    • 0030579593 scopus 로고    scopus 로고
    • PW71 methylation test for Prader-Willi and Angelman syndromes
    • Dittrich B, Buiting K, Horsthemke B. PW71 methylation test for Prader-Willi and Angelman syndromes. Am J Med Genet. 1996;61:196-197.
    • (1996) Am J Med Genet , vol.61 , pp. 196-197
    • Dittrich, B.1    Buiting, K.2    Horsthemke, B.3
  • 12
    • 0030762915 scopus 로고    scopus 로고
    • Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
    • Burger J, Buiting K, Dittrich B, et al. Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet. 1997;61:88-93.
    • (1997) Am J Hum Genet , vol.61 , pp. 88-93
    • Burger, J.1    Buiting, K.2    Dittrich, B.3
  • 13
    • 0036123516 scopus 로고    scopus 로고
    • Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters
    • Singh R, Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia. 2002;43:127-140.
    • (2002) Epilepsia , vol.43 , pp. 127-140
    • Singh, R.1    Gardner, R.J.2    Crossland, K.M.3    Scheffer, I.E.4    Berkovic, S.F.5
  • 14
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes: Commission on Classification and Terminology of the International League Against Epilepsy
    • Proposal for revised classification of epilepsies and epileptic syndromes: Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1989;30:389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 16
    • 0027074912 scopus 로고
    • Angelman syndrome in three siblings: Characteristic epileptic seizures and EEG abnormalities
    • Sugimoto T, Yasuhara A, Ohta T, et al. Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities. Epilepsia. 1992;33:1078-1082.
    • (1992) Epilepsia , vol.33 , pp. 1078-1082
    • Sugimoto, T.1    Yasuhara, A.2    Ohta, T.3
  • 17
    • 0027473988 scopus 로고
    • Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
    • Mutirangura A, Greenberg F, Butler MG, et al. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet. 1993;2:143-151.
    • (1993) Hum Mol Genet , vol.2 , pp. 143-151
    • Mutirangura, A.1    Greenberg, F.2    Butler, M.G.3
  • 18
    • 0031770939 scopus 로고    scopus 로고
    • Angelman syndrome: Are the estimates too low?
    • Buckley RH, Dinno N, Weber P. Angelman syndrome: are the estimates too low? Am J Med Genet. 1998;80:385-390.
    • (1998) Am J Med Genet , vol.80 , pp. 385-390
    • Buckley, R.H.1    Dinno, N.2    Weber, P.3
  • 19
    • 0343591718 scopus 로고
    • On the prevalence of Angelman syndrome
    • Kyllerman M. On the prevalence of Angelman syndrome [letter]. Am J Med Genet. 1995;59:405.
    • (1995) Am J Med Genet , vol.59 , pp. 405
    • Kyllerman, M.1
  • 20
    • 0029648026 scopus 로고
    • Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county
    • Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet. 1995;60:261-262.
    • (1995) Am J Med Genet , vol.60 , pp. 261-262
    • Petersen, M.B.1    Brondum-Nielsen, K.2    Hansen, L.K.3    Wulff, K.4
  • 21
    • 0034954081 scopus 로고    scopus 로고
    • Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health
    • Fombonne E, Simmons H, Ford T, Meltzer H, Goodman R. Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health. J Am Acad Child Adolesc Psychiatry. 2001;40:820-827.
    • (2001) J Am Acad Child Adolesc Psychiatry , vol.40 , pp. 820-827
    • Fombonne, E.1    Simmons, H.2    Ford, T.3    Meltzer, H.4    Goodman, R.5
  • 23
    • 15144357226 scopus 로고    scopus 로고
    • Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
    • Minassian BA, DeLorey TM, Olsen RW, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol. 1998;43:485-493.
    • (1998) Ann Neurol , vol.43 , pp. 485-493
    • Minassian, B.A.1    DeLorey, T.M.2    Olsen, R.W.3
  • 24
    • 0031050904 scopus 로고    scopus 로고
    • Evolution of epilepsy and EEG findings in Angelman syndrome
    • Laan LA, Renier WO, Arts WF, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia. 1997;38:195-199.
    • (1997) Epilepsia , vol.38 , pp. 195-199
    • Laan, L.A.1    Renier, W.O.2    Arts, W.F.3
  • 25
    • 0042948673 scopus 로고
    • Angelman syndrome: Electroclinical features of ten personal cases
    • Dalla Bernardina B, Fontana E, Zullini E, et al. Angelman syndrome: electroclinical features of ten personal cases. Gaslini. 1995;27(suppl 1, pt 2):75-78.
    • (1995) Gaslini , vol.27 , Issue.1-2 SUPPL. AND PART , pp. 75-78
    • Dalla Bernardina, B.1    Fontana, E.2    Zullini, E.3
  • 26
    • 0028803823 scopus 로고
    • Seizure and EEG patterns in Angelman's syndrome
    • Viani F, Romeo A, Viri M, et al. Seizure and EEG patterns in Angelman's syndrome. J Child Neurol. 1995;10:467-471.
    • (1995) J Child Neurol , vol.10 , pp. 467-471
    • Viani, F.1    Romeo, A.2    Viri, M.3
  • 27
    • 8944228923 scopus 로고    scopus 로고
    • Cortical myoclonus in Angelman syndrome
    • Guerrini R, De Lorey TM, Bonanni P, et al. Cortical myoclonus in Angelman syndrome. Ann Neurol. 1996;40:39-48.
    • (1996) Ann Neurol , vol.40 , pp. 39-48
    • Guerrini, R.1    De Lorey, T.M.2    Bonanni, P.3
  • 28
    • 0033041221 scopus 로고    scopus 로고
    • Diagnosis of Angelman syndrome: Clinical and EEG criteria
    • Buoni S, Grosso S, Pucci L, Fois A. Diagnosis of Angelman syndrome: clinical and EEG criteria. Brain Dev. 1999;21:296-302.
    • (1999) Brain Dev , vol.21 , pp. 296-302
    • Buoni, S.1    Grosso, S.2    Pucci, L.3    Fois, A.4
  • 29
    • 0006969895 scopus 로고
    • The evolution of epilepsy in the most common genetic forms with mental retardation (Down's syndrome and the fragile X syndrome)
    • Guerrini R, Dravet C, Ferrari AR, et al. The evolution of epilepsy in the most common genetic forms with mental retardation (Down's syndrome and the fragile X syndrome). Pediatr Med Chir. 1993;15(suppl 1):19-22.
    • (1993) Pediatr Med Chir , vol.15 , Issue.1 SUPPL. , pp. 19-22
    • Guerrini, R.1    Dravet, C.2    Ferrari, A.R.3
  • 33
    • 30344435713 scopus 로고    scopus 로고
    • The complexity of inv dup (15): A mild phenotype associated with heterogeneous electroclinical profile and an imprecise correlation with genotype
    • Freitas A, Valente K, Varela MC, Fridman C, Koiffmann CP. The complexity of inv dup (15): a mild phenotype associated with heterogeneous electroclinical profile and an imprecise correlation with genotype. Epilepsia. 2003;44(suppl 9):55.
    • (2003) Epilepsia , vol.44 , Issue.9 SUPPL. , pp. 55
    • Freitas, A.1    Valente, K.2    Varela, M.C.3    Fridman, C.4    Koiffmann, C.P.5
  • 34
    • 0034124534 scopus 로고    scopus 로고
    • The syndrome of inv dup (15): Clinical, electroencephalographic, and imaging findings
    • Buoni S, Sorrentino L, Farnetani MA, Pucci L, Fois A. The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings. J Child Neurol. 2000;15:380-385.
    • (2000) J Child Neurol. , vol.15 , pp. 380-385
    • Buoni, S.1    Sorrentino, L.2    Farnetani, M.A.3    Pucci, L.4    Fois, A.5
  • 35
    • 0031889409 scopus 로고    scopus 로고
    • West's syndrome associated with inversion duplication of chromosome 15
    • Cabrera JC, Marti M, Toledo L, Gine R, Vazquez C. West's syndrome associated with inversion duplication of chromosome 15. Rev Neurol. 1998;26:77-79.
    • (1998) Rev Neurol , vol.26 , pp. 77-79
    • Cabrera, J.C.1    Marti, M.2    Toledo, L.3    Gine, R.4    Vazquez, C.5
  • 37
    • 0028158822 scopus 로고
    • A case of 15p tetrasomy associated with infantile spasms
    • Kobayashi A, Ito M, Okada M, Yoshioka K. A case of 15p tetrasomy associated with infantile spasms [in Japanese]. No To Hattatsu. 1994;26:74-77.
    • (1994) No to Hattatsu , vol.26 , pp. 74-77
    • Kobayashi, A.1    Ito, M.2    Okada, M.3    Yoshioka, K.4
  • 39
    • 0028915186 scopus 로고
    • Electroclinical diagnosis of Angelman syndrome: A study of 7 cases
    • Casara GL, Vecchi M, Boniver C, et al. Electroclinical diagnosis of Angelman syndrome: a study of 7 cases. Brain Dev. 1995;17:64-68.
    • (1995) Brain Dev , vol.17 , pp. 64-68
    • Casara, G.L.1    Vecchi, M.2    Boniver, C.3
  • 40
    • 0027474136 scopus 로고
    • Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
    • Clayton-Smith J. Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet. 1993;46:12-15.
    • (1993) Am J Med Genet , vol.46 , pp. 12-15
    • Clayton-Smith, J.1
  • 41
    • 0028964548 scopus 로고
    • Clinical profile of Angelman syndrome at different ages
    • Buntinx IM, Hennekam RC, Brouwer OF, et al. Clinical profile of Angelman syndrome at different ages. Am J Med Genet. 1995;56:176-183.
    • (1995) Am J Med Genet , vol.56 , pp. 176-183
    • Buntinx, I.M.1    Hennekam, R.C.2    Brouwer, O.F.3
  • 42
    • 0027338402 scopus 로고
    • A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus
    • Nakatsu Y, Tyndale RF, DeLorey TM, et al. A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature. 1993;364:448-450.
    • (1993) Nature , vol.364 , pp. 448-450
    • Nakatsu, Y.1    Tyndale, R.F.2    DeLorey, T.M.3
  • 43
    • 0032531430 scopus 로고    scopus 로고
    • Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
    • DeLorey TM, Handforth A, Anagnostaras SG, et al. Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. J Neurosci. 1998;18:8505-8514.
    • (1998) J Neurosci , vol.18 , pp. 8505-8514
    • DeLorey, T.M.1    Handforth, A.2    Anagnostaras, S.G.3
  • 44
    • 0032837062 scopus 로고    scopus 로고
    • GABA and epileptogenesis: Comparing gabrb3 gene-deficient mice with Angelman syndrome in man
    • DeLorey TM, Olsen RW. GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man. Epilepsy Res. 1999;36:123-132.
    • (1999) Epilepsy Res , vol.36 , pp. 123-132
    • DeLorey, T.M.1    Olsen, R.W.2
  • 45
    • 0031732092 scopus 로고    scopus 로고
    • Parental view of epilepsy in Angelman syndrome: A questionnaire study
    • Ruggieri M, McShane MA. Parental view of epilepsy in Angelman syndrome: a questionnaire study. Arch Dis Child. 1998;79:423-426.
    • (1998) Arch Dis Child , vol.79 , pp. 423-426
    • Ruggieri, M.1    McShane, M.A.2
  • 46
    • 0029925532 scopus 로고    scopus 로고
    • Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography
    • Odano I, Anezaki T, Ohkubo M, et al. Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. Eur J Nucl Med. 1996;23:598-604.
    • (1996) Eur J Nucl Med , vol.23 , pp. 598-604
    • Odano, I.1    Anezaki, T.2    Ohkubo, M.3
  • 47
    • 0034646223 scopus 로고    scopus 로고
    • Topiramate therapy of epilepsy associated with Angelman's syndrome
    • Franz DN, Glauser TA, Tudor C, Williams S. Topiramate therapy of epilepsy associated with Angelman's syndrome. Neurology. 2000;54:1185-1188.
    • (2000) Neurology , vol.54 , pp. 1185-1188
    • Franz, D.N.1    Glauser, T.A.2    Tudor, C.3    Williams, S.4
  • 48
    • 0035940583 scopus 로고    scopus 로고
    • High-dose ethosuximide for epilepsy in Angelman syndrome: Implication of GABA(A) receptor subunit
    • Sugiura C, Ogura K, Ueno M, Toyoshima M, Oka A. High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit. Neurology. 2001;57:1518-1519.
    • (2001) Neurology , vol.57 , pp. 1518-1519
    • Sugiura, C.1    Ogura, K.2    Ueno, M.3    Toyoshima, M.4    Oka, A.5
  • 49
    • 0036896898 scopus 로고    scopus 로고
    • A Rett patient with a typical Angelman EEG
    • Laan LA, Vein AA. A Rett patient with a typical Angelman EEG. Epilepsia. 2002;43:1590-1592.
    • (2002) Epilepsia , vol.43 , pp. 1590-1592
    • Laan, L.A.1    Vein, A.A.2
  • 50
    • 0038579245 scopus 로고    scopus 로고
    • Another Rett patient with a typical Angelman EEG
    • Valente KD. Another Rett patient with a typical Angelman EEG. Epilepsia. 2003;44:873-874.
    • (2003) Epilepsia , vol.44 , pp. 873-874
    • Valente, K.D.1
  • 51
    • 0028868387 scopus 로고
    • 4p(-) syndrome: A chromosomal disorder associated with a particular EEG pattern
    • Sgro V, Riva E, Canevini MP, et al. 4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern. Epilepsia. 1995;36:1206-1214.
    • (1995) Epilepsia , vol.36 , pp. 1206-1214
    • Sgro, V.1    Riva, E.2    Canevini, M.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.