CDKL5

CDKL5 or Hanefeld syndrome is a rare and unknown disease was discovered in 2004 in Australia by John Christodoulou.

This disease is degenerative and caused alteration of a gene called cdkl5, located on chromosome X. As a result of mutation or deletion, the protein encoded by the gene cdkl5 is not produced or is produced in an altered form, is not working. This disease, often classified in a generic way in syndromes such as atypical Rett, West and Lennox Gastaut or with big words like criptogenetica idiopathic epileptic encephalopathy, pervasive development disorder can be considered a variant of the well-known syndrome, Rett, but unlike this has a very early onset, and usually there is a phase of normalcy. It may also affect both male and female.