A) Continue to explore the phenotype-genotype relations in Rett syndrome and explore these relationships in MECP2 Duplication disorder, and the
Rett-related disorders including CDKL5, FOXG1, and individuals with mutations in MECP2 but not fulfilling the consensus criteria for Rett syndrome.
B) In Rett syndrome, this will include a more in depth look at X chromosome inactivation and in other related gene products such as BDNF.
C) Develop through complex neurophysiologic and neuroimaging a better understanding these markers of biologic involvement.
D) Develop a set of biomarkers through metabolic and proteomic studies in blood.
E) Develop a set of behavioral outcome measures that will provide important endpoints for planned clinical trials.