In the ChAc cases that presented epilepsy as the first and prominent symptom, except for the homozygous frameshift mutation of c.2061dup in our case, nonsense mutations caused by c.8282C > G or c.4326 T > A, frameshift mutation caused by c.2343del or deletion of exons 70–73 and missense mutation caused by c.9263 T > G in exon 69 of VPS13A were reported, which all result in loss-of-function of the encoded protein around the C-terminus (6, 10, 12, 18, 19). This evidence concerns the gene VPS13A and epilepsy.