CAD mutations and uridine-responsive epileptic encephalopathy.

Koch, Johannes

CAD mutations and uridine-responsive epileptic encephalopathy. [electronic resource] - Brain : a journal of neurology 02 2017 - 279-286 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2156

10.1093/brain/aww300 doi


Anemia--complications
Aspartate Carbamoyltransferase--genetics
Brain--diagnostic imaging
Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)--genetics
Child
Child, Preschool
DNA Mutational Analysis
Developmental Disabilities--complications
Dihydroorotase--genetics
Female
Humans
Infant
Magnetic Resonance Imaging
Male
Mutation--genetics
Spasms, Infantile--complications
Uridine--therapeutic use