TY  - GEN
AU  - Koch,Johannes
AU  - Mayr,Johannes A
AU  - Alhaddad,Bader
AU  - Rauscher,Christian
AU  - Bierau,Jörgen
AU  - Kovacs-Nagy,Reka
AU  - Coene,Karlien L M
AU  - Bader,Ingrid
AU  - Holzhacker,Monika
AU  - Prokisch,Holger
AU  - Venselaar,Hanka
AU  - Wevers,Ron A
AU  - Distelmaier,Felix
AU  - Polster,Tilman
AU  - Leiz,Steffen
AU  - Betzler,Cornelia
AU  - Strom,Tim M
AU  - Sperl,Wolfgang
AU  - Meitinger,Thomas
AU  - Wortmann,Saskia B
AU  - Haack,Tobias B
TI  - CAD mutations and uridine-responsive epileptic encephalopathy
SN  - 1460-2156
PY  - 2017///0512
KW  - Anemia
KW  - complications
KW  - Aspartate Carbamoyltransferase
KW  - genetics
KW  - Brain
KW  - diagnostic imaging
KW  - Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Developmental Disabilities
KW  - Dihydroorotase
KW  - Female
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Spasms, Infantile
KW  - Uridine
KW  - therapeutic use
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/brain/aww300
ER  -