Our current clinical projects include a PhD project on behavioural aspects of the Rett syndrome phenotype, aging in Rett syndrome, and depression in adults with Rett syndrome.

We are also engaged in clinical molecular work which includes the recruitment of 20 patients with a classic Rett syndrome phenotype but no mutation in the MECP2 gene or other likely candidates.

By comparison of them with their parents using exomic analysis, we hope to identify otgher loci in which utations can give rise to a RTT phenotype.

Selected publications

• Evans, J. C. et al. 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13 (10), pp.1113-1120. (10.1038/sj.ejhg.5201451)
• Archer, H. L. et al. 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43 (5), pp.451-456. (10.1136/jmg.2005.033464)
• Gill, H. et al. 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40 (5), pp.380-384. (10.1136/jmg.40.5.380)
• Cheadle, J. P. et al. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9 (7), pp.1119-1129. (10.1093/hmg/9.7.1119)

Principal Investigator