Homozygous mutations in the scavenger receptor class B member 2 (SCARB2) gene cause action myoclonus-renal failure syndrome (AMRF), which is an autosomal recessive progressive myoclonic epilepsy, and are associated with significantly reduced GCase activity in patients [24, 68, 374]. This evidence concerns the gene SCARB2 and Action myoclonus - renal failure syndrome.