In addition, Dravet syndrome due to pathogenic variants in SCN1A, KCNQ2-related epilepsy early-onset DEE due to loss-of-function mutations in KCNQ2, GLUT1 deficiency syndrome, due to pathogenic variants in SLC2A1, CDKL5 pathogenic variants causing a severe early onset DEE, PCDH19 girls-clustering epilepsy (PCDH19-GCE), SLC6A1-associated DEE and TSC1- and TSC2-associated epilepsy as in tuberous sclerosis are well-known causes of epilepsy syndromes in the neuropediatric clinic [summarized and adapted from Guerrini et al. (5). The gene discussed is PCDH19; the disease is encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.