Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency

J Sleep Res. 2014 Feb;23(1):118-20. doi: 10.1111/jsr.12085. Epub 2013 Aug 30.
No abstract available

Publication types

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

MeSH terms

  • AMP Deaminase / deficiency*
  • Adult
  • Brugada Syndrome / complications
  • Brugada Syndrome / genetics
  • Disorders of Excessive Somnolence / complications*
  • Disorders of Excessive Somnolence / genetics
  • Disorders of Excessive Somnolence / physiopathology*
  • Female
  • Humans
  • NAV1.5 Voltage-Gated Sodium Channel / genetics
  • Polysomnography
  • Pupil*
  • Purine-Pyrimidine Metabolism, Inborn Errors / complications*
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
  • Reflex, Pupillary* / genetics

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • AMP Deaminase

Supplementary concepts

  • Adenosine monophosphate deaminase deficiency