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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 495 - 500 (6page)
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초록· 키워드
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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 in-frame mutation (1153-1188 del36). 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 genotype-phenotype 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 (21)
참고문헌 신청
Aber KM / 2003 / Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions / Neuroscience 116 : 77 ~ 80
Amir RE / 1999 / Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 / Nat Genet 23 : 185 ~ 188
Ben Zeev Ghidoni B. / 2007 / Rett syndrome / Child Adolesc Psychiatr Clin N Am 16 : 723 ~ 743
Caraballo RH / 2007 / Myoclonic status in nonprogressive encephalopathies: study of 29 cases / Epilepsia 48 : 107 ~ 113
Chae JH / 2002 / Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome / J Child Neurol 17 : 33 ~ 36
Amir RE / 1999 / Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 / Nat Genet 23 : 185 ~ 188
Ben Zeev Ghidoni B. / 2007 / Rett syndrome / Child Adolesc Psychiatr Clin N Am 16 : 723 ~ 743
Caraballo RH / 2007 / Myoclonic status in nonprogressive encephalopathies: study of 29 cases / Epilepsia 48 : 107 ~ 113
Chae JH / 2002 / Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome / J Child Neurol 17 : 33 ~ 36
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