An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.
10.3345/kjp.2010.53.10.909
- Author:
Yang Hee PARK
1
;
June Bum KIM
Author Information
1. Department of Pediatrics, Konyang University College of Medicine, Daejeon, Korea. hoppdoctor@hanmail.net
- Publication Type:Case Report
- Keywords:
Hypokalemic periodic paralysis;
Respiratory insufficiency;
Sodium channel
- MeSH:
Channelopathies;
Female;
Humans;
Hypokalemia;
Hypokalemic Periodic Paralysis;
Muscle Weakness;
Myocardium;
Penetrance;
Phenotype;
Respiratory Insufficiency;
Sodium;
Sodium Channels
- From:Korean Journal of Pediatrics
2010;53(10):909-912
- CountryRepublic of Korea
- Language:English
-
Abstract:
Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene SCN4A, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.
