Apr 25, 2024 · CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by changes (variants) in the CDKL5 gene. CDD has been classified as a DEE because it is thought that the genetic change results in both the epileptic activity as well as the severe impairment of development.

What is CDKL5 deficiency disorder? CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder is a rare neurodevelopmental condition caused by pathogenic variants in the CDKL5 gene. The disorder can cause a wide range of symptoms with varying severity.

CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein.

CDKL5 disorder is a rare neurodevelopmental condition that is characterized by early onset epilepsy (seizures), low muscle tone, and developmental challenges.

CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5. The symptoms of CDD include early infantile onset refractory epilepsy; hypotonia; developmental, intellectual, and motor disabilities, with little or no speech; and cortical visual impairment. [1] .

Find the information and resources you need to care for someone with CDD. Resource Library. When someone you love is affected by CDKL5 Deficiency Disorder (CDD), you want to know about every scientific advance and clinical trial that could help them. That is why the IFCR encourages you to participate in our “Connect CDKL5” platform.

CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development. Explore symptoms, inheritance, genetics of this condition.

Apr 11, 2024 · CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy (DEE) characterized by severe early-onset intractable epilepsy and motor, cognitive, visual, and autonomic disturbances. Movement disorders include chorea, dystonia, and stereotypical hand and leg movements.

CDKL5 deficiency disorder is a rare X-linked genetic disorder first identified in 2004. An X-linked disorder means that the gene carrying the problem is found on the X chromosome. CDKL5 stands for cyclin-dependent kinase-like 5 and is a gene located on the X chromosome.

CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function.