CDKL5 Deficiency DisorderSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Cleveland, Ohio. Dr. Knight is rated as an Elite provider by MediFind in the treatment of CDKL5 Deficiency Disorder. She is also highly rated in 107 other conditions, according to our data. Her clinical expertise encompasses CDKL5 Deficiency Disorder, West Syndrome, Seizures, and Epilepsy. Dr. Knight is board certified in American Board Of Psychiatry And Neurology, 2013.
Children's Hospital Colorado
Scott Demarest is a Neurologist practicing medicine in Aurora, Colorado. Dr. Demarest is rated as an Elite provider by MediFind in the treatment of CDKL5 Deficiency Disorder. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses CDKL5 Deficiency Disorder, West Syndrome, Spasmus Nutans, and Epilepsy.
Helen Leonard practices practicing medicine in Nedlands, Australia. Ms. Leonard is rated as an Elite expert by MediFind in the treatment of CDKL5 Deficiency Disorder. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Rett Syndrome, CDKL5 Deficiency Disorder, West Syndrome, Spasmus Nutans, and Gastrostomy.
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