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

Daisy Rymen, Martijn Lindhout, Maria Spanou, Farah Ashrafzadeh, Ira Benkel, Cornelia Betzler, Christine Coubes, Hans Hartmann, Julie Kaplan, Diana Ballhausen, Johannes Koch, J Lotte, Mohammad Hasan Mohammadi, Marianne Rohrbach, Argirios Dinopoulos, Marieke Wermuth, Daniel N. Willis, Karin Brugger, Ron A. Wevers, Eugen Boltshauser, Jörgen Bierau, Johannes A. Mayr, Saskia B. Wortmann