Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I et al.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. 

Genet Med. 2020 ;22:1589-1597. 

Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R et al.

CAD mutations and uridine-responsive epileptic encephalopathy.

Brain. 2017 ;140:279-286.