J Korean Child Neurol Soc.  2012 Mar;20(1):28-32.

An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis

• Kim KR
• Suh ES
• Lee YM

Abstract

Familial hypokalemic periodic paralysis (HOPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness with concomitant hypokalemia (<3.5 mEq/L). The onset of HOPP usually occurs within the first and second decade of life. Mutations in the skeletal muscle calcium (CACNL1A3) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Voltage-sensitive ion channels mediate action potentials in electrically excitable cells and play important roles in signal transduction in other cell types. Therefore, abnormalities in a channel's function lead to disarray of signal transduction and thus various neurological symptoms. Those are called channel diseases, which include familial HOPP. We report a 14-year-old boy with HOPP from a family in which two members of two generations are affected. Genetic examination identified a mutation causing a codon change from arginine to histidine at the amino acid portion #528 (R528H) in the calcium channel gene CACNL1A3.

Keyword

Hypokalemic periodic paralysis; CACNL1A3; Arg528His mutation; Korean

MeSH Terms

Action Potentials
Adolescent
Arginine
Calcium
Calcium Channels
Codon
Family Characteristics
Histidine
Humans
Hypokalemia
Hypokalemic Periodic Paralysis
Ion Channels
Muscle Weakness
Muscle, Skeletal
Signal Transduction
Sodium Channels
Arginine
Calcium
Calcium Channels
Codon
Histidine
Ion Channels
Sodium Channels