17th June marks World CDKL5 Day. CDKL5 Deficiency Disorder is a rare, genetic epilepsy and Developmental Epileptic Encephalopathy (DEE) caused by changes (variants) in the CDKL5 gene. CDKL5 results in early onset, difficult to control seizures (which start in the first few months of life), and severe neurodevelopmental delay impacting cognitive, motor, speech and visual function. Most people can’t walk, talk or feed themselves, have scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties. As time has gone on it appears that there might be other symptoms that play a role.
