CDKL5 and craniodiaphyseal dysplasia: Furthermore, studies have shown significant alterations in the expression levels of hippocampal CB1R and TPRV1 and cortical TRRV1 and TRPV2 expression in adult CDKL5 R59X mutant mice, suggesting dysregulation of endocannabinoid signaling, which may coincide with the hyperexcitability phenotype in CDD [67].