Recently, a homozygous CACNA2D2 (Calcium Channel, Voltage Dependent, α2δ subunit 2; MIM 607082) mutation was identified in a family with 3 siblings, offspring to consanguineous parents, who presented with early-onset epileptic encephalopathy and global developmental delay. The gene discussed is CACNA2D2; the disease is Epileptic encephalopathy.