Epilepsy spectrum in cerebral creatine transporter deficiency

Epilepsia. 2009 Sep;50(9):2168-70. doi: 10.1111/j.1528-1167.2009.02142.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Brain / metabolism*
  • Child, Preschool
  • Creatine / deficiency*
  • Creatine / genetics
  • Creatine / metabolism
  • Electroencephalography / statistics & numerical data
  • Epilepsy / diagnosis*
  • Epilepsy / genetics
  • Epilepsy / metabolism
  • Fibroblasts / metabolism
  • Humans
  • Magnetic Resonance Spectroscopy / statistics & numerical data
  • Membrane Transport Proteins / deficiency*
  • Membrane Transport Proteins / genetics
  • Membrane Transport Proteins / metabolism
  • Mutation / genetics

Substances

  • Membrane Transport Proteins
  • creatine transporter
  • Creatine