Supporting International CDKL5 Day

Every June the CDKL5 community comes together to recognize CDKL5 disorder, and promote awareness efforts, research, collaboration, and fundraising.  

June 17 is International CDKL5 Day, in memory of Glyn Boltwood, whose life and legacy was directly responsible for the medical and scientific community discovering CDKL5 Disorder in 2004.

CDKL5 deficiency disorder – a Developmental and Epileptic Encephalopathy (DEE) - is a genetic disorder that causes seizures, developmental delay, and severe intellectual disability. Seizures typically begin within a few months after birth and are difficult to control with medications. Most children have 1 to 5 seizures every day. Other symptoms include problems with sleeping, feeding, and teeth grinding. Gastrointestinal symptoms are also common and may include constipation, reflux, and air swallowing.  

About 1 in 5 children use a feeding tube. CDKL5 deficiency disorder occurs more often in females than males, and males usually have more severe symptoms. This disorder is caused by a change (pathogenic variant) in the CDKL5 gene that is usually not inherited from either parent (de novo). It is an X-linked dominant disorder. CDKL5 deficiency disorder was once thought to be a variant of Rett syndrome but is now considered a separate disorder. 

For more useful resources and information, visit:

https://rarediseases.info.nih.gov/diseases/12173/cdkl5-deficiency-disorder