However, reduced membrane levels of GluA2, which have been observed in vitro in neurons silenced for CDKL5 expression and in vivo in the hippocampus and perirhinal cortex of two mouse models of CDD, were recently confirmed in post-mortem brains from two CDD patients [58,59,60], suggesting the relevance of at least some CDKL5-related defects for the human pathology. The gene discussed is CDKL5; the disease is craniodiaphyseal dysplasia.