Soon after the first WWOX familial mutations were linked to SCAR12, new familial mutations, such as homozygous missense, nonsense, splice-site mutations, or compound heterozygous mutations, combining as well with CNVs and ultimately leading to complete loss of WWOX function, were associated with early infantile epileptic encephalopathy (EIEE28; MIM: 616211), a condition also described as WWOX-related epileptic encephalopathy (WOREE) syndrome [7,8,9,31]. The gene discussed is WWOX; the disease is developmental and epileptic encephalopathy, 28.