Sodium channel inactivation is impaired in equine hyperkalemic periodic paralysis.

Abstract excerpt

1. Equine hyperkalemic periodic paralysis (E-HPP) is a dominantly inherited disorder of muscle that causes recurrent episodes of stiffness (myotonia) and weakness in association with elevated serum K+. Affected horses carry a mutant allele of the skeletal muscle isoform of the Na channel alpha-subunit. To understand how this mutation may cause the disease phenotype, the functional defect in Na channel behavior...

Topics

• Animals
• Electrophysiology
• Horse Diseases
• Horses
• Models, Genetic
• Muscle, Skeletal
• Paralyses, Familial Periodic
• Phenotype
• Point Mutation
• Polymerase Chain Reaction
• Sodium Channels