CDKL5

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CDKL5 deficiency disorder (CDD) is a severe form of refractory epilepsy that typically affects girls from the age of 6 weeeks.

The loss of the CDKL5 protein leads to motor problems, and often an inability to speak, cortical blindness and GI issues.

The majority of children with CDKL5 suffers from daily seizures, in spite of being on several anti-seizure medications.

Cures and treatments

There is currently no cure and no effective treatment.
Current treatment options


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Science

The genetics of CDKL5

The International Foundation for CDKL5 Research