Supporting CDKL5

What is CDKL5?

CDKL5 Deficiency is a rare genetic condition that mainly affects girls. It is caused by defects in a protein, called CDKL5, which occur due to mutations in its gene located on the X-chromosome. It is not known what the protein does, although research is starting to provide some answers. The CDKL5  protein obviously has an important role in early brain development.

What we do know is that as result of mutations in the gene, affected children begin to suffer epileptic seizures, usually in their first few weeks or months of life. They subsequently have severe developmental delay, do not usually develop the ability to walk or talk, and are completely dependent for their needs. In addition, they commonly suffer a number of other problems including, visual impairment, reflux (often requiring surgery) and musculo-skeletal problems. In Ellie, we have also seen wild mood swings, where she can go from being manically happy to miserably grumpy or cross. She also has a very erratic sleep pattern, which we assume is due to her epilepsy.

CDKL5 is a distinct condition in its own right...

Neurodevelopmental delay due to mutations in the CDKL5 gene was only first identified in 2004. Prior to that children were thought to have a variation of another condition, called Rett Syndrome, that has similar features. However, it is now clear that CDKL5 is a distinct clinical condition. The incidence of CDKL5  has been estimated to be 2 to 3 new cases for every 100,000 births.