Illuminating CDKL5 deficiency

20 June 2023

By Dr Nicola Davies

CDKL5 deficiency disorder (CDD), which has an incidence of 1 in 40,000 to 60,000 newborns, is a developmental disorder caused by either the presence of a non-functional cyclin-dependent kinase-like 5 (CDKL5) protein known as serine-threonine kinase (STK9), or its complete absence.1,2

These mutations cause epileptic activity at a very early age, along with severe developmental impairment impacting cognitive, motor, speech, and visual function. The month of June is earmarked by the CDD community for spreading awareness about this disorder, promoting research, and supporting affected patients and families.3

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