Korean J Pediatr.  2008 Jul;51(7):771-774. 10.3345/kjp.2008.51.7.771.

An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis

• Yeo CY
• Kim YO
• Kim MK
• Kim JY
• Cho YK
• Kim CJ
• Woo YJ

• KMID: 2280267
• DOI: http://doi.org/10.3345/kjp.2008.51.7.771

Abstract

Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but there are only a few cases with identified mutations. We report a 12-year-old boy and his affected mother with hypoPP who has a heterozygous G to A substitution at codon 1239 in exon 30 of the CACNL1A3 gene that causes a change from arginine to histidine (Arg1239His, CACNL1A3). This mutation is common among Caucasians; however, it has not yet been reported in Koreans. The patients were treated with oral acetazolamide and potassium replacement and were instructed to avoid precipitating factors. After the medication and lifestyle modification, the paralytic attacks significantly decreased.

Keyword

Hypokalemic periodic paralysis; CACNL1A3; Arg1239His mutation; Korean

MeSH Terms

Acetazolamide
Arginine
Calcium Channels, L-Type
Channelopathies
Child
Codon
Exons
Histidine
Humans
Hypokalemia
Hypokalemic Periodic Paralysis
Ion Channels
Life Style
Mothers
Potassium
Precipitating Factors
Sodium Channels
Acetazolamide
Arginine
Calcium Channels, L-Type
Codon
Histidine
Ion Channels
Potassium
Sodium Channels