Figure 1.
Patient images. (A) Patient 3 with alobar HPE and a c.436C>T p.(Arg146*) variant in STAG2; (B) Patient 5 with microform HPE and a c.2898_2899del p.(Glu968Serfs*15) in STAG2; (C) Patient 2 with semi-lobar HPE and a c.205C>T p.(Arg69*) variant in STAG2; (D) Patient 9 with semi-lobar HPE and a c.2683C>G p.( Arg895Gly) variant in SMC1A; (E) Patient 7 with middle interhemispheric variant HPE and a c.3285+1G>C variant in SMC1A; (F) Patient 8 with microform HPE and a c.1495C>T p.(Arg499*) variant in SMC1A; (G) Patient 15 with semi-lobar HPE and an SMC3 variant c.1138_1152del p.(Gly380_Gln384del). See Table 1 for further details.