FIGURE 4.

An overview of GLIALCAM variants found in MLC patients. (A) The GLIALCAM gene is depicted. Exonic regions are indicated by blocks; intronic regions by lines. Exonic regions and intronic regions depicted with a horizontal line are drawn to scale. All variants are indicated above or below the gene schematic. Resulting peptide alterations are indicated for exonic variants, and coding DNA alteration for an intronic variant. Variants are depicted in their relative positions. Dominant GLIALCAM variants are depicted in blue; recessive variants are depicted in black. (B) Schematic representation of GlialCAM in a cell membrane.