Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort

Adv Neurol. 2005:95:103-17.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Body Temperature / physiology
  • Cohort Studies
  • Electroencephalography / classification
  • Electroencephalography / methods
  • Epilepsies, Myoclonic / epidemiology
  • Epilepsies, Myoclonic / genetics*
  • Epilepsies, Myoclonic / physiopathology
  • Epilepsies, Myoclonic / therapy
  • Epilepsy, Reflex / physiopathology
  • Female
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Japan / epidemiology
  • Japan / ethnology
  • Male
  • Mental Disorders / physiopathology
  • Mutation*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Sodium Channels / genetics*
  • Treatment Outcome

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels