Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome

Neurology. 2008 Jun 10;70(24):2343-4. doi: 10.1212/01.wnl.0000314731.65875.5c.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Female
  • Homozygote*
  • Humans
  • Infant
  • Liver Diseases / genetics
  • Liver Diseases / physiopathology
  • Male
  • Mutation*
  • NAV1.7 Voltage-Gated Sodium Channel
  • Pain Insensitivity, Congenital / diagnosis
  • Pain Insensitivity, Congenital / genetics*
  • Pedigree
  • Sodium Channels / genetics*
  • Syndrome

Substances

  • NAV1.7 Voltage-Gated Sodium Channel
  • SCN9A protein, human
  • Sodium Channels