CDKL5


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CDKL5

A gene on chromosome Xq22 that encodes a serine/threonine protein kinase which phosphorylates MECP2 and is expressed in the brain.

Molecular pathology
Defects in CDKL5 cause early infantile epileptic encephalopathy type 2
References in periodicals archive ?
Finally, after about a year of this, we got a definite diagnosis of the CDKL5 disorder in April of this year.
In the future, though, we hope to widen our scope and donate a portion of the proceeds to the International Foundation for CDKL5 Research.
CDKL5 or Stk9 has been linked to atypical Rett syndrome and X-linked West syndrome.
CDKL5 disruption by t(X; 18) in a girl with West syndrome.
The tot was diagnosed with having CDKL5 and holds devastating odds of being the 17th child in the world to suffer from the rare genetic condition.
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.