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http://dx.doi.org/10.3345/kjp.2012.55.5.171

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)
Publication Information
Clinical and Experimental Pediatrics / v.55, no.5, 2012 , pp. 171-176 More about this Journal
Abstract
Purpose: The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea. Methods: We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric Neurology at Severance Children's Hospital from March 2005 to March 2011. Results: Fourteen (9 males and 5 females) subjects (82.3%) were diagnosed with epilepsy in AS. The most common seizure types were generalized tonic-clonic (n=9, 27%) and myoclonic (n=9, 27%), followed by atonic (n=8, 24%), atypical absence (n=4, 12%) and complex partial seizure (n=3, 9%). The most commonly prescribed antiepileptic drug (AED) was valproic acid (VPA, n=12, 86%), followed by lamotrigine (LTG, n=9, 64%), and topiramate (n=8, 57%). According to questionnaires that determined whether each AED was efficacious or not, VPA had the highest response rate and LTG was associated with the highest rate of seizure exacerbation. Complete control of seizures was achieved in 6 patients. Partial control was achieved in 7 patients, while one patient was not controlled. Conclusion: Epilepsy is observed in the great majority of AS patients. It may have early onset and is often refractory to treatment. There are few reports about epilepsy in AS in Korea. This study will be helpful in understanding epilepsy in AS in Korea.
Keywords
Angelman syndrome; Epilepsy; Anticonvulsants;
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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