BAP1 is a tumor suppressor gene that promotes the repair of DNA double-strand breaks, and it is often mutated in several cancer types, including non-fluke iCCA; PBRM1 is involved in transcriptional activation and repression by chromatin remodeling and has been found mutated in iCCA. The gene discussed is PBRM1; the disease is infantile convulsions and choreoathetosis.