CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.
As its name suggests, CDKL5 deficiency disorder is caused by variants (also known as mutations) in the CDKL5 gene. This gene provides instructions for making a protein that is essential for normal brain development and function.
CDKL5 deficiency disorder appears to be a rare condition with an incidence of 1 in 40,000 to 60,000 newborns. About 90 percent of those diagnosed with CDKL5 deficiency disorder are girls.
This condition is inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a variant in one of the two copies of the CDKL5 gene in each cell causes the disorder. In males (who have only one X chromosome), a variant in the only copy of the gene causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Published Date: May 09, 2022Published By: National Institutes of Health