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Genetic and epileptic features in Rett syndrome

Authors
 Hyo Jeong Kim  ;  Shin Hye Kim  ;  Heung Dong Kim  ;  Joon Soo Lee  ;  Young-Mock Lee  ;  Kyo Yeon Koo  ;  Jin Sung Lee  ;  Hoon-Chul Kang 
Citation
 YONSEI MEDICAL JOURNAL, Vol.53(3) : 495-500, 2012 
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
 0513-5796 
Issue Date
2012
MeSH
Adolescent ; Child ; Child, Preschool ; Epilepsy/genetics* ; Epilepsy/pathology* ; Female ; Genotype ; Humans ; Male ; Methyl-CpG-Binding Protein 2/genetics* ; Mutation ; Phenotype ; Retrospective Studies ; Rett Syndrome/genetics* ; Rett Syndrome/pathology*
Keywords
Rett syndrome ; epilepsy ; MECP2 mutation
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.
Files in This Item:
T201203412.pdf Download
DOI
22476991
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Goo, Kyo Yeon(구교연)
Kim, Shin Hye(김신혜)
Kim, Hyo Jeong(김효정)
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/92141
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