A Novel Cav1.1-K1245Q Mutation Leading to Hypokalemic Periodic Paralysis
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: 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 کامل[Thyrotoxic hypokalemic periodic paralysis. A case report].
Thyrotoxic hypokalemic periodic paralysis is an uncommon complication of thyrotoxicosis, characterized by attacks of generalized muscular weakness associated with hypokalemia in patients with hyperthyroidism, most frequently with Graves-Basedow disease. Treatment with antithyroid drugs and potassium supplements reversed the symptoms and the episodes of acute muscular weakness did not reappear.
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2013
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2012.11.1648