MECP2 and Rett syndrome: There is much evidence to suggest that MECP2_e1 may be the etiologically relevant isoform in Rett Syndrome based on its expression profile in the brain and because, to-date, no mutations in Rett individuals have been discovered that affect MECP2_e2 exclusively, while mutations have been found in exon 1 that exclusively impact on MECP2_e1 [4], [5].