SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review
نویسندگان
چکیده
منابع مشابه
Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported. We detected the R672H mutation in one HypoPP Turkish family.
متن کامل[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene].
INTRODUCTION Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study. PATIENTS AND METHODS The five patients were subje...
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We describe a 37-year-old man with a 4-month history of episodic muscular weakness, involving mainly lower-limbs. Hypokalemia was documented in one episode and managed with intravenous potassium chloride. Hyperthyroidism was diagnosed 4 months after onset of attacks because of mild symptoms. The patient was subsequently diagnosed as having thyrotoxic periodic paralysis associated with Graves' d...
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Mutations of skeletal muscle sodium channel a subunit (SCN4A) gene are associated with a group of allelic diseases, including periodic paralysis, paramyotonia congenital, sodium channel myotonia, and congenital myasthenic syndrome. Periodic paralysis is characterized by episodic attacks of flaccid weakness with the fluctuation of serum potassium, which are usually limited to skeletal muscles ow...
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...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2019
ISSN: 1664-2295
DOI: 10.3389/fneur.2019.01138