In previous studies, three homozygous CELSR3 variants were reported, including two homozygous CELSR3 variants (c.6407G>A/p.Gly2136Asp21 and c.7890G>A/p.Met2630Ile20) identified in patients with early infantile epileptic encephalopathy. Here, CELSR3 is linked to infantile epileptic encephalopathy.