Familial hyperkalemic periodic paralysis caused by ade novomutation in the sodium channel geneSCN4A
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چکیده
منابع مشابه
Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis reveal...
متن کاملA sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation.
Hyperkalemic periodic analysis (HPP) is an autosomal dominant disorder characterized by episodic weakness lasting minutes to days in association with a mild elevation in serum K+. In vitro measurements of whole-cell currents in HPP muscle have demonstrated a persistent, tetrodotoxin-sensitive Na+ current, and we have recently shown by linkage analysis that the Na+ channel alpha subunit gene may...
متن کاملHyperkalemic Periodic Paralysis Synonym: HyperPP
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, ...
متن کاملHyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene
Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-o...
متن کاملRhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis
Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic paralysis without secondary causes. Primary hypokalemic periodic paralysis is a rare genetic disease characterized by episodic attacks of muscle weakness due to decreases in serum p...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2011
ISSN: 1738-1061,2092-7258
DOI: 10.3345/kjp.2011.54.11.470