SAV1 and infantile convulsions and choreoathetosis: Over 60% of ICCA cases exhibited a non-inflammatory phenotype, characterized by the presence of stemness-related pathways, BRCA1 associated protein 1 (BAP1), and isocitrate dehydrogenase 1 (IDH1) mutations, as well as focal loss of Salvador family WW domain containing protein 1 (SAV1).