2015). This was the first study to identify any potential genetic association for this disorder, but since the variants described were found only in single individuals (Schrauwen et al. 2015), we posed the question about whether either TEAD1 or OCEL1 variants are a more common or a rare cause of Aicardi syndrome, or whether they represent an incidental finding unrelated to the clinical diagnosis. The gene discussed is OCEL1; the disease is Aicardi syndrome.