Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):703-4. doi: 10.1136/jnnp.2009.177451.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Humans
  • Hypokalemia / physiopathology*
  • NAV1.4 Voltage-Gated Sodium Channel
  • Paralyses, Familial Periodic / genetics*
  • Paralyses, Familial Periodic / physiopathology*
  • Pedigree
  • Point Mutation / genetics*
  • Potassium / blood*
  • Sodium Channels / genetics*

Substances

  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Sodium Channels
  • Potassium