Genetic and Epileptic Features in Rett Syndrome.
10.3349/ymj.2012.53.3.495
- Author:
Hyo Jeong KIM
1
;
Shin Hye KIM
;
Heung Dong KIM
;
Joon Soo LEE
;
Young Mock LEE
;
Kyo Yeon KOO
;
Jin Sung LEE
;
Hoon Chul KANG
Author Information
1. Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea. hipo0207@yuhs.ac
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Rett syndrome;
epilepsy;
MECP2 mutation
- MeSH:
Adolescent;
Child;
Child, Preschool;
Epilepsy/*genetics/*pathology;
Female;
Genotype;
Humans;
Male;
Methyl-CpG-Binding Protein 2/*genetics;
Mutation;
Phenotype;
Retrospective Studies;
Rett Syndrome/*genetics/*pathology
- From:Yonsei Medical Journal
2012;53(3):495-500
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
