Clinical responses to antiepileptic intervention was also monitored.<h4>Results</h4>We identified a novel de novo heterozygous pathogenic frameshift variant in <i>SATB1</i> (NM_002971.5: c.1718_1719insCA; p.Val574Argfs*134) in a patient presenting with early-onset epilepsy, mild intellectual developmental disorder (IDD), speech delay, and dental anomalies. Here, SATB1 is linked to intervertebral disk degenerative disorder.