UBA5 and Epileptic spasm: Moreover, a microdeletion of approximately 3.2 Mb (Chr3: 129762317-132948291) within the 3q22.1 region, leading to loss of UBA5 gene expression, and a hemizygous missense mutation, UBA5 c.214C > T (p.Arg72Cys), were observed in the genome of a child with persistent West syndrome, epileptic spasms, severe developmental delay, severe encephalopathy, and cerebellar atrophy [48].