Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V
نویسندگان
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...
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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...
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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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متن کاملNovel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.
BACKGROUND Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K+ channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features. METHODS AND RESULTS In 3 Japanese family members with periodic paralysis, ventricular arrhythmias, and marked QT prolongation, polymerase chain reaction/single-st...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2018
ISSN: 1664-2295
DOI: 10.3389/fneur.2018.00430