SPTAN1 and infantile epilepsy syndrome: At the protein level, western blots validated expression changes in CBS (mental retardation [53]), NEAS/SPTAN1 (associated with infantile epilepsy [54]), FBLN1 (cardiac morphogenesis [55]), FXR1 (muscle development [56]), and SHANK2 (neuronal differentiation in the retina [57]) (Fig. 3b).