Associated Papers
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Fehr S et al.
Journal of Neurodevelopmental Disorders, 2015
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
Bahi-Buisson N et al.
Molecular Syndromology, 2012
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Williamson SL et al.
Human Genetics, 2012
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
Kilstrup-Nielsen C et al.
Neural Plasticity, 2012
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.
Bienvenu T et al.
Nature Reviews. Genetics, 2006
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Evans JC et al.
European Journal of Human Genetics : Ejhg, 2005
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