<b>Results</b>: Apart from mutations in classical dominant epilepsy genes (<i>TSC2</i>, <i>DEPDC5</i>, and <i>CACNA1I</i>), pathogenic mutations in rare recessive epilepsy-related genes (<i>PGAP2</i>, <i>NOVA2</i>, and <i>CCDC88C</i>) were also identified. The gene discussed is CACNA1I; the disease is epilepsy.