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Current Overview of CDKL-5 Deficiency Disorder Treatment
Giovanni Battista Dell'Isola1, Katherin Elizabeth Portwood2, Kirsten Consing2
1Department of Pediatrics, University of Perugia, 06129 Perugia, Italy.
Abstract:
CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine-threonine kinase involved in neural maturation and synaptogenesis [...].
Insights
CDKL5 deficiency disorder (CDD) involves symptoms from absent or non-functional CDKL5 protein, crucial for brain development. This research explores the underlying mechanisms of CDD.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- CDKL5 deficiency disorder (CDD) arises from mutations in the CDKL5 gene.
- The CDKL5 protein is vital for proper neural maturation and synapse formation.
- Understanding CDD's molecular basis is key for therapeutic development.
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