CDKL5/STK9 mutations have been demonstrated in a broad spectrum of phenotypes, including X-linked infantile spasms (ISSX) or West syndrome, infantile epileptic encephalopathy, Otohara syndrome, Atypical Rett syndrome with infantile spasms or the Hanefeld variant, Mild mental retardation and autism, and Angelman syndrome-like phenotype. CDKL5/STK9 mutations are X-linked and appear to be less common in males than females, though few male patients have been studied. The CDKL5/STK9 gene codes for the cyclin-dependent kinase-like 5 or serine threonine kinase 9 protein (OMIM #300203) and is located at Xp22. Deletions and/or duplications in the CDKL5 gene have been reported. Contact the International Foundation for CDKL5 Research (www.cdkl5.com) for more information and support.
Specimen Types Accepted
If sending saliva, 2 kits are required.