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更新日期：2018-10-24
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CDKL5 stands for cyclin-dependent kinase-like 5, a protein whose gene is located on the X chromosome. The CDKL5 gene provides instructions for making a protein that is essential in forming the connections for normal brain development, with mutations causing a deficiency in the protein level. Most children affected by CDKL5 deficiency disorder (about 90 percent of whom are girls) suffer from seizures that begin in the first few months of life. Most cannot walk, talk, or feed themselves, and many are confined to wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory problems, and gastrointestinal difficulties.
CDKL5 mutations have been found in children diagnosed with cerebral palsy and autism, among other conditions, and the disorder had been previously thought of as an early onset seizure variant of Rett Syndrome, though it is now recognized as an independent clinical entity. Mutations in the gene are usually spontaneous occurrences, rather than inherited, and physicians do not yet know the full range of CDKL5 disorders. There are currently more than 1,200 diagnosed cases of CDKL5 worldwide, with the number of identified patients increasing daily as genetic testing for the disorder becomes more common.
The CDKL5 Forum is a unique community of collaboration and knowledge exchange, made up of leading scientists, clinicians and company representatives from around the world, united in the mission of better understanding the CDKL5 gene and disorder. The objective is to share current research on CDKL5 and to stimulate peer-group discussion and brainstorming around existing and future avenues of research and therapeutic approaches, in order to accelerate treatments and ultimately find cures for this neuro-genetic disorder.
The CDKL5 Forum is a project of the Loulou Foundation.
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