233 top medical experts on CDKL5 deficiency disorder across 28 countries and 25 U.S. states, including 69 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. CDKL5 deficiency disorder: CDKL5 deficiency disorder 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations
  4. Synonyms: CDKL5 Disorder,  2 Early Infantile Epileptic Encephalopathy,  X-Linked 2 Infantile Spasm Syndrome,  Cdkl5-Related Atypical Rett Syndrome,  With Infantile Spasms Variant Rett Syndrome


  

        

                    


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