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This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.