Skip to main content
. 2023 Jul 24;80(9):980–988. doi: 10.1001/jamaneurol.2023.2363

Figure 2. Magnetic Resonance Images From Affected Individuals With PANX1 and QRICH1 Variants .

Figure 2.

A, PMG24901 has a de novo missense variant in PANX1 (p.Asn338Thr) and unilateral right severe polymicrogyria and agyria with an unremarkable left hemisphere. B, PMGSL101 has a de novo missense variant in PANX1 (p.Met37Arg) and has diffuse bilateral polymicrogyria with closed lip schizencephaly. C, PMG20601 has a de novo missense variant in PANX1 (p.Asp14His) as well as diffuse bilateral polymicrogyria, worse on the right than left, and poor myelination. D, PMG11701 has a de novo frameshift variant in QRICH1, p.Phe384GlnfsTer5. E, PS5201 has a de novo frameshift variant in QRICH1, p.Val102PhefsTer144. Example regions of polymicrogyria are marked with white arrowheads.