Characterization of a NaV1.4 Hypokalemic Periodic Paralysis Mutation in Domain I
نویسندگان
چکیده
منابع مشابه
Primary hypokalemic periodic paralysis.
Primary hypokalemic periodic paralysis (PHPP) is a rare entity first described by Shakanowitch in 1882. Only a few cases of PHPP have been reported in Indian literature in adults(l). In children hypokalemic paralysis secondary to gastroenteritis and chronic renal disease is much more common than primary disease(2). We hereby report a case of PHPP in a child, successfully managed with acetazolam...
متن کاملA calcium channel mutation causing hypokalemic periodic paralysis.
The only calcium channel mutation reported to date is a deletion in the gene for the DHP-receptor alpha 1-subunit resulting in neonatal death in muscular dysgenesis mice (1). In humans, this gene maps to chromosome 1q31-32. An autosomal dominant muscle disease, hypokalemic periodic paralysis (HypoPP), has been mapped to the same region (2). Sequencing of cDNA of two patients revealed a G-to-A b...
متن کاملHyperthyroid hypokalemic periodic paralysis
Hyperthyroid periodic paralysis (HPP) is a rare life threatening complication of hyperthyroidism commonly occurring in young Asian males but sporadically found in other races. It is characterised by hypokalemia and acute onset paraparesis with prevalence of one in one hundred thousand (1 in 100000). The symptoms resolve promptly with potassium supplementation. Nonselective beta blockers like pr...
متن کاملhypokalemic periodic paralysis: age of onset in a retrospective study
primary hypokalemic periodic paralysis is a familial channelopathy inherited as an autosomal dominant trait. the first attack of paralysis may be evolved at any age, but has been reported to be most common in the second decade, so that some authorities believe that an episodic weakness beginning after age 25 is almost never due to primary periodic paralysis. in this retrospective study, we revi...
متن کاملHypokalemic periodic paralysis: an omega pore mutation affects inactivation.
Among the human diseases caused by ion channel mutations hypokalemic periodic paralysis (HypoPP) has thrown up more than its fair share of puzzles. Patients have attacks of skeletal muscle paralysis associated with low serum potassium, and harbor dominant mutations affecting the muscle calcium (CaV1.1) or sodium (NaV1.4) channels respectively. Why do mutations in either channel converge on a co...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2018
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2017.11.3413