Team CDKL5 Riding for a Cure

Research and advocacy opportunities are made possible by the support of individuals like you. As an organization, we would like to thank you, and we ask you to continue to work alongside us towards a brighter tomorrow. We have an aggressive research agenda that is focused on clinical treatments at our CDKL5 Centers of Excellence, as well as a cure.

Together, we can continue to push science and technology in the direction of a cure while harnessing treatments and spreading awareness across the globe!

What is CDKL5 Defciancy Disorder?

CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. It is an orphan disorder, however more children are being diagnosed as awareness of CDKL5 spreads. CDKL5 stands for cyclin-dependent kinase-like 5, and is located on the X chromosome. The CDKL5 gene was previously called STK9.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

What causes CDKL5 Deficiency Disorder?

CDKL5 mutations have been found in children diagnosed with Infantile Spasms, West Syndrome, Lennox-Gastaut, Rett Syndrome, cerebral palsy, autism and intractable epilepsy of unknown origin. However, it is important to note that scientists and doctors do not know what causes CDKL5 mutations, or the full spectrum of CDKL5 disorders at this time. It is likely that there are many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder, and continue the search for a desperately needed cure.

Does CDKL5 Deficiency Disorder Affect Only Girls?

While it's true that the majority of diagnosed children affected by CDKL5 are females, there has been an increase of males diagnosed in recent years.