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Megan has CDKL5, a genetic disorder that means she has seizures every day.
A novel CDKL5 mutation in a 47, XXY boy with the early-onset seizure variant of Rett's syndrome.
Finally, after a year of searching, they were told that the child was suffering from a duplication mutation in her CDKL5 gene, a rare X-linked genetic disorder that results in seizures and severe neuro-developmental impairment.
Their partners in supporting this work are parent's organizations worldwide including Reverse Rett (UK), Rett Syndrome Research & Treatment Foundation (Israel), Rett Syndrome and CDKL5 Ireland, Skye Wellesley Foundation (UK), Stichting Rett Syndrome (Holland), Rett Syndrom Deutschland e.
Genetic defect is found on MECP2 gene and CDKL5 gene.
CDKL5 is a brain MeCP2 target gene regulated by DNA methylation.
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- CDK5-Binding Protein
- CDK6 inhibitor p18
- CDK8 protein kinase
- CDK8-like cyclin-dependent kinase
- CDK9-associated C-type protein
- CDL Instruction Permit