FIGURE 1.

(A) The pedigree of the reported family with GLUT1-DS caused by a nonsense mutation c.73C > T (p.Q25X) in SLC2A1 gene. (B) Distribution of the reported mutations of SLC2A1 gene. The black boxes represent exons. The numbers to the left and the right of the intron–exon boundaries represent amino acid residues and nucleotides, respectively. The three large fragment deletion mutations and one missense mutation with limited information are not listed. (C) The conformational model of GLUT1 and the location of the reported mutations of the SLC2A1 gene. The three large fragment deletions and two splice-site mutations are not listed. The red dot represents a novel mutation c.73C > T (p.Gln25*) found in the familial cases. Some numbers between brackets represent the total number of patients identified with the mutation. Mutation hotspots are represented with an asterisk.