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CDKL5Cyclin-Dependent Kinase-Like 5 (gene)
References in periodicals archive ?
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.