De novo R853Q mutation of SCN2A gene and West syndrome

Acta Neurol Belg. 2015 Dec;115(4):773-6. doi: 10.1007/s13760-015-0454-8. Epub 2015 Mar 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arginine / genetics
  • Glutamine / genetics
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • NAV1.2 Voltage-Gated Sodium Channel / genetics*
  • Spasms, Infantile / genetics*

Substances

  • NAV1.2 Voltage-Gated Sodium Channel
  • SCN2A protein, human
  • Glutamine
  • Arginine