Frésard et al. recently used RNA-seq to identify a pathogenic splicing mutation around the 3′ end of exon 5 in ASAH1 that leads to exon 6 skipping and causes Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMAPME [MIM: 159950]) [125]. The gene discussed is ASAH1; the disease is spinal muscular atrophy-progressive myoclonic epilepsy syndrome.