CDKL5 and craniodiaphyseal dysplasia: Through the integration of preclinical data and clinical data from multicenter clinical studies, his team demonstrated that the ratio of acetylated/total tubulin is consistently increased in the brain and plasma of Cdkl5-KO mice as well as in the plasma of CDD patients, suggesting that plasma Acetylated/Total tubulin is a reliable biomarker for CDD.