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Genetic and epileptic features in Rett syndrome

 Hyo Jeong Kim  ;  Shin Hye Kim  ;  Heung Dong Kim  ;  Joon Soo Lee  ;  Young-Mock Lee  ;  Kyo Yeon Koo  ;  Jin Sung Lee  ;  Hoon-Chul Kang 
 Yonsei Medical Journal, Vol.53(3) : 495-500, 2012 
Journal Title
 Yonsei Medical Journal 
Issue Date
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.
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
Yonsei Authors
강훈철(Kang, Hoon Chul) ; 구교연(Goo, Kyo Yeon) ; 김신혜(Kim, Shin Hye) ; 김효정(Kim, Hyo Jeong) ; 김흥동(Kim, Heung Dong) ; 이영목(Lee, Young Mock) ; 이준수(Lee, Joon Soo) ; 이진성(Lee, Jin Sung)
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