Cases were reported of two sisters presenting with basal ganglia calcifications and generalized epilepsy as main phenotype carrying mutations in the SLC20A2 and in the CHRNB2 genes (known to be associated with AD frontal lobe epilepsy) and a young boy with basal ganglia calcification and refractory epilepsy carrying mutations in the SLC20A2 and in the SCN2A genes [68,69]. The gene discussed is SCN2A; the disease is Basal ganglia calcification.