CDKL5

Summary

CDKL5 (cyclin-dependent kinase-like 5) is a gene that is essential for normal brain development and function.
Changes in the CDKL5 gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
Abnormal changes to the CDKL5 gene can cause developmental and epileptic encephalopathy (DEE).
CDKL5 epilepsy often starts in the first few months of life and is more common in females than males.
People with CDKL5 epilepsy can have a severe intellectual disability.
Poor motor skill development, respiratory issues and speech limitations are common in children with CDKL5 epilepsy.
Diagnosis for CDKL5 epilepsy will require genetic testing.

Contacts and information