The primary cause of startle disease is defective inhibitory glycinergic transmission due to missense, nonsense, or frameshift mutations in the glycine receptor (GlyR) α1 gene (GLRA1) (Shiang et al., 1993, 1995; Chung et al., 2010), although large deletions of exons 1–7 have also been reported (Brune et al., 1996; Becker et al., 2006). Here, GLRA1 is linked to hereditary hyperekplexia.