In 2018, Jessika Johannsen et al. examined two consanguineous patients with a homozygosity for the missense variant in the catalytic short-chain dehydrogenase/reductase (SDR) domain of the WWOX gene; both patients were characterized by early epilepsy refractory to treatment, progressive microcephaly, profound developmental delay, and brain MRI abnormalities. The gene discussed is CAVIN2; the disease is microcephaly.