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Hyperkalemic periodic paralysis (HYPP, HyperKPP) is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium , heat or cold, can lead to uncontrolled shaking followed ...
Hyperkalemic periodic paralysis is an autosomal dominant clinical condition where there is a mutation in gene located at 17q23 that regulates the production of protein SCN4A. SCN4A is an important component of sodium channels in skeletal muscles.
hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia: Na v 1.5: SCN5A: Cardiac myocytes, uninnervated skeletal muscle, central neurons, gastrointestinal smooth muscle cells and Interstitial cells of Cajal
This means people with both hyperkalemic periodic paralysis and paramyotonia congenita can have attacks with fluctuations of potassium up or down. Andersen-Tawil syndrome (Online Mendelian Inheritance in Man (OMIM): 170390), a form of periodic paralysis that includes significant heart rhythm problems, fainting and risk of sudden death ...
Hyperkalemic periodic paralysis: Voltage-gated sodium channel Hypokalemic periodic paralysis: Voltage-gated sodium channel or. voltage-dependent calcium channel (calciumopathy) Lambert–Eaton myasthenic syndrome: Voltage-gated calcium channel Long QT syndrome main type Romano-Ward syndrome: various, by type Malignant hyperthermia: Ligand-gated ...
Liddle's syndrome, also called Liddle syndrome, [1] is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. [1]
Mutations in KCNJ2 lead to hypokalemic periodic paralysis with cardiac arrhythmias called Andersen–Tawil syndrome. [citation needed] In contrast, hyperkalemic periodic paralysis refers to gain-of-function mutations in sodium channels that maintain muscle depolarisation and therefore are aggravated by high potassium ion concentrations.
hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia: Na v 1.5: SCN5A: Cardiac myocytes, uninnervated skeletal muscle, central neurons, gastrointestinal smooth muscle cells and Interstitial cells of Cajal