Western blot and RT-qPCR analyses further validated that the levels of HOXA5 expression were down-regulated in ECCA tissues, related to the matched adjacent tissues, which was not observed in ICCA (Fig. 2C, D, Fig. S2B), suggesting that HOXA5 might be crucial for the pathogenesis of ECCA. Here, HOXA5 is linked to infantile convulsions and choreoathetosis.