Publications by authors named "Amanda Jaksha"
Article Synopsis
- The current landscape for treating cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is promising due to scientific advancements and collaborative efforts despite the challenges faced by this small patient community.* -
- Over a decade of patient advocacy and data collection has led to significant insights into CDD, aiding in the development of effective treatments by identifying key disease patterns and symptoms.* -
- The International Foundation for CDKL5 Research emphasizes the importance of ongoing advocacy, funding, and collaboration to overcome challenges such as long research timelines and access to therapies while striving for progress.*
Background: Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5 deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive, motor, visual, and autonomic disturbances. This disorder is a relatively common genetic cause of early-life epilepsy. A specific severity assessment is lacking, required to monitor the clinical course and needed to define the natural history and for clinical trial readiness.
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