Genetic and epileptic features in Rett syndrome.

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

SUBMITTER: Kim HJ 

PROVIDER: S-EPMC3343433 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature