Hypokalemic periodic paralysis: an omega pore mutation affects inactivation
نویسندگان
چکیده
منابع مشابه
Hypokalemic 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 کاملPrimary 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...
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متن کاملA Na+ Channel Mutation Linked to Hypokalemic Periodic Paralysis Exposes a Proton-selective Gating Pore
The heritable muscle disorder hypokalemic periodic paralysis (HypoPP) is characterized by attacks of flaccid weakness, brought on by sustained sarcolemmal depolarization. HypoPP is genetically linked to missense mutations at charged residues in the S4 voltage-sensing segments of either CaV1.1 (the skeletal muscle L-type Ca(2+) channel) or NaV1.4 (the skeletal muscle voltage-gated Na(+) channel)...
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Missense mutations of the human skeletal muscle voltage-gated Na channel (hSkM1) underlie a variety of diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita, and potassium-aggravated myotonia. Another disorder of sarcolemmal excitability, hypokalemic periodic paralysis (HypoPP), which is usually caused by missense mutations of the S4 voltage sensors of the L-type...
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ژورنال
عنوان ژورنال: Channels
سال: 2015
ISSN: 1933-6950,1933-6969
DOI: 10.1080/19336950.2015.1062325