Syndromic disorders with epilepsy in patients with MECP2 mutations

The X-linked MECP2 gene is involved in two disorders that are associated with an intellectual developmental disorder and further neurological symptoms often, e.g. epilepsy. In Rett syndrome, there is a loss of function of the MECP2 gene and in duplication syndrome, there is an oversupply of the MeCP2 protein. Clinical criteria are available for the diagnosis of Rett syndrome, and the phenotypic presentation of MECP2 duplication syndrome is highly variable. Epilepsy can be difficult to treat in both syndromes, and no specific treatment recommendation exists. Various approaches in research (pharmacological and genetic) give hope for possible causative treatment in the future.