CDKL5 is a very rare genetic disorder caused by a mutation in the CDKL5 gene on the X chromosome. This gene normally provides the building instructions for a protein that is crucial for the development and function of the brain.

The disease usually becomes noticeable in the first few months of life - often through difficult-to-treat epileptic seizures. As the disease progresses, the children show a clear developmental delay: many are unable to sit, walk, speak or eat independently.

In addition to epilepsy, there are often other accompanying symptoms, including muscle and movement restrictions, scoliosis, sleep problems, visual disturbances and gastrointestinal complaints.

As CDKL5 is an orphan disease, research is still in its infancy. Therapies are currently aimed primarily at alleviating the seizures and improving the quality of life of the children and their families.