Associated Papers
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM et al.
The Embo Journal, 2018
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.
Jdila MB et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS et al.
Epilepsia, 2011
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
Nectoux J et al.
Clinical 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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