Figure 3.

Validation of the Light Scanner technology. To assess the application of this method we performed a series of validation assays utilising known genetic variations in the GLRA1 gene in a population of hyperekplexia patients. This screening method accurately detected all heterozygous (red and orange) and homozygous (blue) missense mutations present. The most common GLRA1 mutation associated with hyperekplexia, R271Q, is shown in red. The assay also detected a false-positive variant (green) generated due to the poor quality of amplified PCR product. Population control samples are shown in grey.