An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A / 소아과
Korean Journal of Pediatrics
;
: 909-912, 2010.
Article
in English
| WPRIM
| ID: wpr-209660
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Respiratory Insufficiency
/
Sodium
/
Sodium Channels
/
Muscle Weakness
/
Penetrance
/
Hypokalemic Periodic Paralysis
/
Channelopathies
/
Hypokalemia
/
Myocardium
Limits:
Female
/
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2010
Type:
Article
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