In a recent summary of targeted sequencing studies for 17 genes in 811 patients with lissencephaly, a diagnostic rate of 81% was observed, in which > 99% of pathogenic variants were in LIS1, DCX, TUBA1A, or DYNC1H1, none of which are inherited in an autosomal recessive fashion. The gene discussed is PAFAH1B1; the disease is lissencephaly spectrum disorders.