GOSR2 and progressive myoclonus epilepsy: Homozygous missense (G144W: layer −3) or compound heterozygous missense and deletion mutations (G144W and K164del: between layer +2 and +3) in the Membrin SNARE motif have recently been shown to cause the severe neurological syndrome progressive myoclonus epilepsy (PME) (Corbett et al., 2011, Praschberger et al., 2015).