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INFANTILE SPASMS, WEST SYNDROME, EARLY-ONSET INTRACTABLE EPILEPSY,LENNOX GASTAUT SYNDROME, ATYPICAL RETT SYNDROME [HANEFELD VARIANT], AUTISM

We are glad you have found us! We are a small but growing group of families who have children with a CDKL5 disorder. We have set up this website to collect and share information with families, doctors and researchers interested in CDKL5 as well as to provide support for families through education, outreach and the knowledge that they are not alone.

There are currently only 50 individuals with a CDKL5 disorder published worldwide but we know as word spreads about CDKL5 a rapidly increasing number are being diagnosed. It is estimated there are now over 200 children who have a diagnosis of a CDKL5 disorder many of those don't have contact with other families.

If you are here because you are the parent of a newly diagnosed child please let us know who you are by going to the 'Support' page to join our online support group.

Please also register your child on the database on the 'Research Participation' page. The database is an invaluable source of information for research into treatments for CDKL5 disorders.

If you are a doctor who has made a new diagnosis please register your patient on the InterRett database on the 'Research Participation' page.

If you have come across this website in your search for a diagnosis for your child and you think he/she may have a CDKL5 disorder please send a link to this site to your child's doctor. CDKL5 is not widely known about yet and may have been overlooked as a cause for your child's condition.

This is your website and we welcome you to contribute with research information, personal stories, photos and any news relevant to CDKL5.

The more we know about CDKL5 the closer we are to finding treatments and a cure .

CDKL5 is a gene that is found on one of our sex chromosomes called the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The long-winded name is cyclin-dependent kinase-like 5. The CDKL5 gene was previously called STK9 and sometimes people think that the two genes might be different but they are in fact the same.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not determined which proteins are targeted by the CDKL5 protein.

Mutations in the CDKL5 gene are have been found in girls with Atypical Rett Syndrome and boys and girls with X-linked infantile spasm syndrome (ISSX), West Syndrome, early onset seizures and Lennox Gastaut Syndrome.

To date one girl with a milder form having moderate intellectual delay and autistic features with no seizures or physical disabilities has been diagnosed. Another with late onset, well controlled seizures has recently been diagnosed.

With the limited information on identified individuals with CDKL5 mutations, it seems that is is not degenerative. However, there is still much to be learnt abotu the effect of CDKL5 on brain development, structure and function. As more research is undertaken we hope that a more definitive answer to this question is possible.

Some CDKL5 mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function. Other mutations lead to the production of an abnormally short, nonfunctional version of the protein. Researchers are working to determine how these changes result in seizures and the characteristic features of Rett syndrome [RTT] in affected children The involvement of CDKL5 in RTT seems to be explained by the fact that it works upstream of MeCP2, the main cause of RTT.

At the moment we do not know the answer to this question as so far testing for CDKL5 is limited to children with a diagnosis of Rett Syndrome who have been tested negative to the Rett Syndrome gene MECP2 and a handful of children who have severe early onset Infantile Spasms or epilepsy onset within the first few months of life. To date there are 50 published cases of individuals and it is estimated over 200 children worldwide are recognized as having a CDKL5 disorder. As awareness of CDKL5 and the disorders it causes increases more affected individuals are being identified.