PTCHD1 and developmental and epileptic encephalopathy: Within the cohort of patients experiencing developmental and epileptic encephalopathy (DEE), WES has revealed genetic variants in novel genes (FGF12, GABBR1, GABBR2, ITPA, KAT6A, PTPN23, RHOBTB2, SATB2) and candidate epilepsy-associated genes (CAMTA1, FAT3, GABRA6, HUWE1, PTCHD1) [94].