Clinical Aspects of Rett Syndrome

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

Rett syndrome: clinical and molecular update.

PURPOSE OF REVIEW New information on the clinical and molecular aspects of Rett syndrome has emerged at an accelerated pace since the identification of mutations in methyl-CpG-binding protein 2 gene (MECP2) was first reported in 1999. Recent reports not only present new insights into the clinical and molecular understanding of this unique disorder but also have important implications for the ne...

Rett syndrome: clinical and electrophysiologic aspects.

Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective study was to investigate the correlation between clinical stages and electroen...

Rett syndrome - clinical and biological aspects.

Clinical Characteristics of Children with Rett Syndrome

OBJECTIVE To identify the clinical characteristics and investigate function related aspects of Korean children with Rett syndrome. METHOD A total of 26 patients diagnosed as Rett syndrome were clinically observed until the age of five or over. We surveyed past history, developmental history, and presence of typical clinical features of Rett syndrome. Furthermore, we investigated differences i...