A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy

J Sleep Res. 2012 Jun;21(3):352-3. doi: 10.1111/j.1365-2869.2011.00986.x. Epub 2011 Nov 25.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cohort Studies
  • Epilepsy, Frontal Lobe / diagnosis
  • Epilepsy, Frontal Lobe / genetics*
  • Epilepsy, Frontal Lobe / physiopathology
  • Female
  • Frontal Lobe / physiopathology*
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Mutation, Missense / genetics*
  • Polysomnography
  • Receptors, Nicotinic / genetics*

Substances

  • Receptors, Nicotinic
  • nicotinic acetylcholine receptor alpha4 subunit