genes

What is CDKL5?

[Jordanna Joaquina, MS, CGC]

I don't know if you are referring to a gene, but there is a gene called CDKL5 located on the X chromosome (one of the sex chromosomes) at the location p22.

Mutations in this gene have been found in females with an atypical form of Rett syndrome called the early-onset seizure variant. This severe form of Rett syndrome  causes recurrent seizures beginning in infancy along with the features of Rett Syndrome.

Mutations in the CDKL5 gene have also been identified in some other syndromes such as X-linked infantile spasm syndrome (ISSX). This condition also causes recurrent seizures in infancy.

Hope you find this information helpful!