PAFAH1B1 and Pachygyria: Structural brain MRI analysis revealed diffuse and generalized pachygyria and grade III to IV lissencephaly (Figure 1C) that is consistent with the clinical findings in other patients with similar defects of PAFAH1B1. Generalized seizures and infantile spasms are common clinical features associated with deficiency of PAFAH1B1[16,17].