What is CDKL5 Disorder? (Definition)
(Symptoms, Causes & Treatment)
According to the U.S. National Library of Medicine, The CDKL5 gene provides instructions for making a protein called cyclin-dependent kinase-like 5 which is essential for normal brain development and function. It regulates neuronal morphology through cytoplasmic signaling and controlling gene expression
More than 10 mutations in the CDKL5 gene have been identified in females with a condition similar to Rett syndrome (a disorder with features that include developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). Girls with CDKL5 gene mutations have many of the features of classic Rett syndrome. However, unlike girls with classic Rett syndrome, they also develop recurrent seizures beginning in infancy. Although this condition was previously described as an atypical form of Rett syndrome (often called the early-onset seizure variant), it is now usually considered to be a separate condition.
See below for updated news and information regarding CDKL5 Disorder including new medical research, treatment options and advancements.
Latest CDKL5 Disorder Research – Treatment News, Discoveries and Findings
No recent news regarding CDKL5 Disorder is available.
Clinical Resources: Treatment Therapies & Guidelines
Clinical Trials – Investigational Therapies
For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll Free: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search
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