CDKL5 deficiency disorder

Overview

What is CDKL5 deficiency disorder?

CDKL5 deficiency disorder is a rare genetic neurologic disorder that causes seizures early in life, along with many developmental delays that usually follow. CDKL5 deficiency disorder has often been grouped with other inherited seizure disorders that can affect young children, such as Rett syndrome, Lennox-Gastaut syndrome, or the infantile epileptic encephalopathies. It has also been referred to as atypical Rett syndrome and early infantile epileptic encephalopathy 2 (or EIEE2). However, as more is learned about CDKL5 deficiency disorder, the genetics and characteristics of the condition make it unique from the others. Therefore, the most accurate name for the condition is CDKL5 deficiency disorder.

CDKL5 deficiency disorder is caused by changes (or mutations) in the CDKL5 gene, which is on the X chromosome. There are more girls than boys with CDKL5 deficiency disorder. Most have seizures within the first few months of life and the seizures tend to be difficult to control. CDKL5 deficiency disorder also impacts a person's development. Most people with this condition have severely delayed development and may not achieve all of the developmental milestones. CDKL5 deficiency disorder can also result in sleep and feeding difficulties.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/cdkl5-deficiency-disorder/overview/59492 • DATE UPDATED: 2017-12-14

References

About CDKL5. International Foundation for CDKL5 Research. Retrieved December 10, 2017 from https://www.cdkl5.com/about-cdkl5/.

Fehr, S. et al. (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Medical Genetics, Vol 21, pp. 266-273. Retrieved December 10, 2017 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573195/pdf/ejhg2012156a.pdf.

CDKL5 deficiency disorder. Genetics Home Reference. Retrieved December 14, 2017 from https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder.

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