- 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.
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