CAD mutations and uridine-responsive epileptic encephalopathy

Johannes Koch*, Johannes A. Mayr, Bader Alhaddad, Christian Rauscher, Jorgen Bierau, Reka Kovacs-Nagy, Karlien L. M. Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A. Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M. Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B. WortmannTobias B. Haack

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)279-286
Number of pages8
JournalBrain
Volume140
DOIs
Publication statusPublished - Feb 2017

Keywords

  • global developmental delay
  • epilepsy
  • anaemia
  • anisopoikilocytosis
  • uridine
  • OROTIC ACIDURIA
  • INBORN-ERRORS
  • METABOLISM

Cite this

Koch, J., Mayr, J. A., Alhaddad, B., Rauscher, C., Bierau, J., Kovacs-Nagy, R., Coene, K. L. M., Bader, I., Holzhacker, M., Prokisch, H., Venselaar, H., Wevers, R. A., Distelmaier, F., Polster, T., Leiz, S., Betzler, C., Strom, T. M., Sperl, W., Meitinger, T., ... Haack, T. B. (2017). CAD mutations and uridine-responsive epileptic encephalopathy. Brain, 140, 279-286. https://doi.org/10.1093/brain/aww300