These findings are in line with previous genomic studies reporting that FGFR, BAP1 and IDH1/2 alterations cluster in a subgroup of iCCA patients that is distinct from the subgroup of iCCA patients with TP53, KRAS, SMAD4 and ARID1A alterations8,15. The gene discussed is BAP1; the disease is infantile convulsions and choreoathetosis.