Team CDLK5 Riding for a Cure

CDKL5 Giving Page

The IFCR mission is to lead the way in finding a cure and treatments for CDKL5 disorder by funding global research efforts, and increasing awareness of CDKL5 disorder, while enhancing the quality of life for those affected by CDKL5 disorder, by providing information, programs, and services. 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. 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.