Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

Neurology. 2008 Jul 1;71(1):64-6. doi: 10.1212/01.wnl.0000316306.08751.28.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution / genetics
  • Brain / pathology
  • Brain / physiopathology
  • Brain / surgery
  • Child
  • Drug Resistance / genetics
  • Electroencephalography
  • Epilepsy / genetics*
  • Epilepsy / metabolism
  • Epilepsy / physiopathology
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology
  • Mutation / genetics
  • Neurons / metabolism
  • Neurons / pathology
  • Neuropeptides / genetics*
  • Neuroserpin
  • Neurosurgical Procedures
  • Serpins / genetics*
  • Sleep / genetics*
  • Sleep Wake Disorders / genetics*
  • Sleep Wake Disorders / metabolism
  • Sleep Wake Disorders / physiopathology
  • Status Epilepticus / genetics*
  • Status Epilepticus / metabolism
  • Status Epilepticus / physiopathology
  • Treatment Outcome

Substances

  • Neuropeptides
  • Serpins