Learn About CDKL5 Deficiency Disorder
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.
Cleveland Clinic Main Campus
Elia Knight is a Pediatrics provider in Cleveland, Ohio. Dr. Knight is rated as an Elite provider by MediFind in the treatment of CDKL5 Deficiency Disorder. Her top areas of expertise are CDKL5 Deficiency Disorder, West Syndrome, Seizures, and Epilepsy.
Scott Demarest is a Pediatric Neurologist in Aurora, Colorado. Dr. Demarest is rated as an Elite provider by MediFind in the treatment of CDKL5 Deficiency Disorder. His top areas of expertise are CDKL5 Deficiency Disorder, West Syndrome, Spasmus Nutans, and Epilepsy. Dr. Demarest is currently accepting new patients.
Helen Leonard practices in Nedlands, Australia. Ms. Leonard is rated as an Elite expert by MediFind in the treatment of CDKL5 Deficiency Disorder. Her top areas of expertise are Rett Syndrome, CDKL5 Deficiency Disorder, West Syndrome, Spasmus Nutans, and Gastrostomy.
Summary: Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures. An international patient registry aimed at collecting both patient/caregiver and clinician-entered demographic, patient-reported outcome (PRO) and treatment data would benefit both the scientific and patient...
Summary: Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments and cortical visual impairment. While capability for disease modifying therapies is accelerating, there is a critical barrier for clinical trial readiness that may result...
Published Date: May 09, 2022
Published By: National Institutes of Health