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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).

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...

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

Our vision is to increase awareness and improve outcomes for children with movement disorders and other neurodevelopmental conditions impacting on motor function.

We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.