Genetic and Epileptic Features in Rett Syndrome
| Autor: | Joon Soo Lee, Jin Sung Lee, Young Mock Lee, Hoon Chul Kang, Hyo Jeong Kim, Shin Hye Kim, Kyo Yeon Koo, Heung Dong Kim |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Genotype Methyl-CpG-Binding Protein 2 Encephalopathy Rett syndrome Electroencephalography MECP2 Epilepsy Neurodevelopmental disorder medicine Humans Child Psychiatry Retrospective Studies medicine.diagnostic_test partial seizures Neurology & Neurosciences business.industry MECP2 mutation Retrospective cohort study General Medicine medicine.disease Phenotype Child Preschool Mutation Original Article Female business |
| Zdroj: | Yonsei Medical Journal |
| ISSN: | 1976-2437 0513-5796 |
| DOI: | 10.3349/ymj.2012.53.3.495 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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