Other diseases associated with CACNA1A mutations are Spinocerebellar Ataxia type 6 (SCA6; Zhuchenko et al., 1997) and Developmental and Epileptic Encephalopathy 42 (Epi4K Consortium, 2016), which all show phenotypic similarities to the symptoms observed in PMM2-CDG. Here, PMM2 is linked to spinocerebellar ataxia type 6.