In mice, CSTB deficiency causes progressive neuron loss, which is most striking in the cerebellum, the emergence of which coincides with the onset of myoclonus (Pennacchio et al., 1998) and is preceded by prevalent rearrangements of synaptic proteins in the cerebellum (Gorski et al., 2020) and altered GABAergic signaling in cerebellar Purkinje cells (Joensuu et al., 2014). This evidence concerns the gene CSTB and Myoclonus.