The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertain…
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual ce…
Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and sup…
Our findings provide additional insight into the early clinical profile of Rett syndrome.
We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability wit…
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this…
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.