Epilepsy in Korean patients with Angelman syndrome |
Park, Sung-Hee
(Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine)
Yoon, Jung-Rim (Department of Pediatrics, Inje University Sanggye Paik Hospital) Kim, Heung-Dong (Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine) Lee, Joon-Soo (Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine) Lee, Young-Mock (Department of Pediatrics, Gangnam Severance Hospital) Kang, Hoon-Chul (Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine) |
1 | Angelman H. 'Puppet' children: a report of three cases. Dev Med Child Neurol 1965;7:681-8. |
2 | Smith JC. Angelman syndrome: evolution of the phenotype in adolescents and adults. Dev Med Child Neurol 2001;43:476-80. DOI ScienceOn |
3 | Williams CA, Frias JL. The Angelman ("happy puppet") syndrome. Am J Med Genet 1982;11:453-60. DOI ScienceOn |
4 | Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev 2005;27:88-94. DOI ScienceOn |
5 | Williams CA, Lossie A, Driscoll D; R.C. Phillips Unit. Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet 2001;101:59-64. DOI ScienceOn |
6 | Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A 2006;140:413-8. |
7 | Valente KD, Fridman C, Varela MC, Koiffmann CP, Andrade JQ, Grossmann RM, et al. Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns. Epilepsy Res 2005;67:163-8. DOI ScienceOn |
8 | Nolt DH, Mott JM, Lopez WL. Assessment of anticonvulsant effectiveness and safety in patients with Angelman's syndrome using an Internet questionnaire. Am J Health Syst Pharm 2003;60:2583-7. |
9 | Ostergaard JR, Balslev T. Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience. Dev Med Child Neurol 2001;43:718-9. DOI ScienceOn |
10 | Clayton-Smith J. Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet 1993;46:12-5. DOI ScienceOn |
11 | Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, et al. Clinical profile of Angelman syndrome at different ages. Am J Med Genet 1995;56:176-83. DOI ScienceOn |
12 | Matsumoto A, Kumagai T, Miura K, Miyazaki S, Hayakawa C, Yamanaka T. Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 1992;33:1083-90. DOI ScienceOn |
13 | Park JC, Kim HD, Lee SH. A case of Angelman syndrome. J Korean Child Neurol Soc 1999;6:359-64. |
14 | 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. DOI ScienceOn |
15 | 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;32:285-90. DOI ScienceOn |
16 | Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 1987;28:829-38. DOI ScienceOn |
17 | Nicholls RD, Pai GS, Gottlieb W, Cantu ES. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol 1992;32:512-8. DOI ScienceOn |
18 | Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, 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. DOI ScienceOn |
19 | Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997;15:74-7. DOI |
20 | Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-3. DOI ScienceOn |
21 | Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 2001;38:834-45. DOI |
22 | Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Angelman syndrome: clinical profile. J Child Neurol 1992;7:270-80. DOI ScienceOn |
23 | Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, et al. Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 1994;52:158-63. DOI ScienceOn |
24 | Buoni S, Grosso S, Pucci L, Fois A. Diagnosis of Angelman syndrome: clinical and EEG criteria. Brain Dev 1999;21:296-302. DOI ScienceOn |
25 | Galvan-Manso M, Campistol J, Conill J, Sanmartm FX. Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. Epileptic Disord 2005;7:19-25. |
26 | Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, et al. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia 2009;50:2369-76. DOI ScienceOn |
27 | Fiumara A, Pittala A, Cocuzza M, Sorge G. Epilepsy in patients with Angelman syndrome. Ital J Pediatr 2010;36:31. DOI ScienceOn |
28 | Viani F, Romeo A, Viri M, Mastrangelo M, Lalatta F, Selicorni A, et al. Seizure and EEG patterns in Angelman's syndrome. J Child Neurol 1995;10:467-71. DOI ScienceOn |
29 | Elia M, Guerrini R, Musumeci SA, Bonanni P, Gambardella A, Aguglia U. Myoclonic absence-like seizures and chromosome abnormality syndromes. Epilepsia 1998;39:660-3. DOI ScienceOn |
30 | Laan LA, Renier WO, Arts WF, Buntinx IM, vd Burgt IJ, Stroink H, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997;38:195-9. DOI ScienceOn |
31 | Valente KD, Koiffmann CP, Fridman C, Varella M, Kok F, Andrade JQ, et al. Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. Arch Neurol 2006;63:122-8. DOI ScienceOn |
32 | Sugimoto T, Yasuhara A, Ohta T, Nishida N, Saitoh S, Hamabe J, et al. Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities. Epilepsia 1992;33:1078-82. DOI ScienceOn |
33 | Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998;43:485-93. DOI ScienceOn |
34 | Boyd SG, Harden A, Patton MA. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988;147:508-13. DOI ScienceOn |
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