Ma et al. found that p.Val713Glu mutation of KCNH1 leads to a gain of protein function, probably by inducing a conformational change at the C-terminus or interrupting Ca calmodulin binding, which inhibits channel activity as its location shows, that potassium conductance on the membrane increases due to the mutation and finally results in clinical epilepsy phenotype, such as infantile-onset epilepsy. This evidence concerns the gene KCNH1 and epilepsy.