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 En
| WPRIM
| ID: wpr-209660
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Phenotype
/
Respiratory Insufficiency
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Sodium
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Sodium Channels
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Muscle Weakness
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Penetrance
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Hypokalemic Periodic Paralysis
/
Channelopathies
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Hypokalemia
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Myocardium
Limits:
Female
/
Humans
Language:
En
Journal:
Korean Journal of Pediatrics
Year:
2010
Document type:
Article