Epilepsy is highly prevalent in Rett syndrome (RTT) and is quite challenging to manage. There is large variability in epilepsy onset. Frequent behaviors in Rett syndrome mimic seizures. In addition, effects of anti-seizure medication may exacerbate common RTT symptoms. Developing objective clinical criteria to predict epilepsy onset would be a significant advancement in clinical care, allowing clinicians to develop risk-based management strategies and to support trials of new therapies.
With support from Rettsyndrome.org, Dr. Fu is developing a predictive algorithm for Rett-related epilepsy using longitudinally collected clinical data on girls with classic Rett and EEG characteristics to determine patient phenotype. He also is using MECP2 mouse models, examining neuronal gene expression changes associated with seizure development in MECP22 mutant mice. The results of this study could have an important impact on patient care decisions and also provide insight into molecular mechanisms warranting further study as potential targets for future anti-epileptogenesis therapies.