2010). The underlying cause of hyperekplexia involves dysfunctional glycinergic transmission (Harvey et al. 2008) and causative mutations are typically found in the genes encoding GlyR α1 (GLRA1; Shiang et al. 1993, 1995; Chung et al. 2010) and β subunits (GLRB; Rees et al. 2002), and the presynaptic glycine transporter, GlyT2 (Rees et al. 2006). Here, GLRA1 is linked to hyperekplexia.