Given the similarity of clinical signs to startle disease, primers were designed to amplify exons and flanking splice donor, acceptor, and branch-point sites for the major causative genes, GLRA1, GLRB, and SLC6A5, deriving gene structures in silico using the UCSC Genome Browser (http://genome.ucsc.edu/). The gene discussed is SLC6A5; the disease is hereditary hyperekplexia.