Figure 1.

De Novo GNAO1 Mutations in Individuals with Epileptic Encephalopathy

Schematic representation of GNAO1, including two transcript variants: transcript variant 1 (RefSeq NM_020988.2) with nine exons and transcript variant 2 (RefSeq NM_138736.2) with eight exons. The UTRs and coding regions are shown in white and black rectangles, respectively. Three mutations occurred in common exons of two transcript variants, and one mutation occurred uniquely in transcript variant 1. Note that the electropherogram of individual 2 suggested mosaicism of the c.521A>G mutation, and a heterozygous C>T change (rs1065375) was clearly demonstrated. All mutations caused substitution or deletion of evolutionarily conserved amino acids. Homologous sequences were aligned with the use of the CLUSTALW web site.