A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A

Neurology. 2009 Sep 22;73(12):993-5. doi: 10.1212/WNL.0b013e3181b87959.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials / genetics
  • Adult
  • Ataxia / genetics*
  • Ataxia / metabolism
  • Ataxia / physiopathology
  • DNA Mutational Analysis
  • Electromyography
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Kv1.1 Potassium Channel / genetics*
  • Muscle Contraction / genetics
  • Muscle Cramp / genetics
  • Muscle Cramp / metabolism
  • Muscle Cramp / physiopathology
  • Muscle Weakness / genetics
  • Muscle Weakness / metabolism
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics*
  • Myokymia / genetics
  • Myokymia / metabolism
  • Myokymia / physiopathology
  • Myotonic Disorders / genetics*
  • Myotonic Disorders / metabolism
  • Myotonic Disorders / physiopathology
  • NAV1.4 Voltage-Gated Sodium Channel
  • Sodium Channels / genetics*

Substances

  • KCNA1 protein, human
  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Sodium Channels
  • Kv1.1 Potassium Channel