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CDKL5Cyclin-Dependent Kinase-Like 5 (gene)
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The same algorithm accurately estimated cholinergic dysfunction in the BTBR, CDKL5, and MeCP2-deficient mice.
The couple, who have since gone on to have another son, Archie, have been fundraising for the charity CDKL5 UK since George's diagnosis.
CDKL5 encodes a ubiquitously expressed serine/ threonine kinase whose catalytic domains share homology with members of the cyclin-dependent kinase family and mitogen-activated protein kinases [8].
Catherine with Rachel Sophie has the extremely rare genetic disorder, CDKL5, which causes constant seizures and severe neurodevelopmental impairment.
Sophie is one of only around 50 people in the UK to be diagnosed with CDKL5 - a rare genetic condition that results in seizures and severe developmental issues.
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.V., and American organizations, Girl Power 2 Cure , the Kate Foundation for Rett Syndrome Research, Eva Fini Fund at RSRT, Rocky Mountain Rett Association, Anastasi Fund, Claire's Crusade and the New Jersey Rett Syndrome Association.
Rett syndrome (RTT), an X-linked neurodevelopment disorder affecting almost exclusively females, is associated with a single monogenic mutation (methyl-CpG binding protein 2, MeCP2) in up to 95% of cases [1], more rarely by mutations in cyclin-dependent kinase-like 5 (CDKL5) [2], and forkhead box protein G1 (FOXG1) gene [3].