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Purpose: Rett syndrome is a severe neurodevelopmental disorder in females. Most have mutations in the methyl-CpG-binding protein 2 (MECP2) gene (80-90%). Epilepsy is a significant commonly accompanied feature in Rett syndrome. Our study was aimed at comprehensive analysis of genetic and clinical features in Rett syndrome patients, especially in regards to epileptic features. Materials and Methods: We retrospectively reviewed 20 patients who were diagnosed with MECP2 mutations at Severance Children's Hospital between January 1995 and July 2010. All patients met clinical criteria for Rett syndrome. Evaluations included clinical features, epilepsy classification, electroencephalography analysis, and treatment of seizures. Results: Ages ranged from 3.6 to 14.3 years (7.7±2.6). Fourteen different types of MECP2 mutations were found, including a novel inframe mutation (1153-1188 de136). Fourteen of these patients (70.0%) had epilepsy, and the average age of seizure onset was 3.0±1.8 years. Epilepsy was diverse, including partial seizure in four patients (28.5%), secondarily generalized seizure in six (42.8%), generalized tonic seizure in two (14.3%), Lennox-Gastaut syndrome in one (7.1%), and myoclonic status in non-progressive encephalopathy in one (7.1%). Motor functions were delayed so that only 10 patients (50.0%) were able to walk independently: five (35.8%) in the epilepsy group and five (83.3%) in the non-epilepsy group. Average developmental scale was 33.5±32.8 in the epilepsy group and 44.4±21.2 in the non-epilepsy group. A clear genotypephenotype correlation was not found. Conclusion: There is a tendency for more serious motor impairment and cognitive deterioration in Rett syndrome patients with epilepsy.

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참고문헌 (21건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 An update on clinically applicable diagnostic criteria in Rett syndrome: Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting Baden Baden, Germany, 11 September 2001 네이버 미소장
2 Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8. 미소장
3 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 네이버 미소장
4 Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions 네이버 미소장
5 Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2 네이버 미소장
6 Report of the ILAE Classification Core Group 네이버 미소장
7 Prognostically Important EEG Coma Patterns in Diffuse Anoxic and Traumatic Encephalopathies in Adults 네이버 미소장
8 Rett Syndrome 네이버 미소장
9 Epilepsy and the natural history of Rett syndrome. 네이버 미소장
10 Epilepsy in Rett syndrome—The experience of a National Rett Center 네이버 미소장
11 Seizures in Rett syndrome: An overview from a one-year calendar study 네이버 미소장
12 Epilepsy in a representative series of Rett syndrome 네이버 미소장
13 Rett's Syndrome 네이버 미소장
14 Electroencephalographic findings in Rett syndrome 네이버 미소장
15 Rett syndrome and the electroencephalogram. 네이버 미소장
16 Electroencephalographic abnormalities in Rett syndrome 네이버 미소장
17 Myoclonic Status in Nonprogressive Encephalopathies: Study of 29 Cases 네이버 미소장
18 Myoclonic status in nonprogressive encephalopathies: an update. 네이버 미소장
19 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 네이버 미소장
20 Pan H, Wang YP, Bao XH, Meng HD, Zhang Y, Wu XR, et al. MECP2 gene mutation analysis in Chinese patients with Rett syndrome. Eur J Hum Genet 2002;10:484-6. 미소장
21 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. 네이버 미소장

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