CDKL5  

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 

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