Notably, CACNG4 (enhanced cardiac hypertrophy), ADD2 (low muscle tone), SPTAN1 (epilepsy), SHANK2 (retinal defects), WNT (neuronal abnormality), GABBR2 (neuronal abnormality), CAMK2B (enhanced cardiac hypertrophy/neuronal defects), BEX1 (neuronal defects), and ARSA (neuronal defects) are genes exhibiting significant expression changes in MDS cells at the RNA and protein levels. This evidence concerns the gene GABBR2 and epilepsy.