Disease relevance of Hypokalemic Periodic Paralysis

• A patient with secondary (sporadic type) hypokalemic periodic paralysis with relative hypertension had reninism with a high concentration of plasma angiotensin I (ANG-I) but no hyperaldosteronism or high angiotensin II value [1].
• The most common causes are Familial Hypokalemic Periodic Paralysis (FHypoKPP), an autosomal dominant disease, and Thyrotoxic Hypokalemic Periodic Paralysis (THypoKPP), secondary to thyrotoxicosis [2].
• Metabolic acidosis was produced in two patients with hypokalemic periodic paralysis by the administration of ammonium chloride over a period of three days [3].
• Three patients with Hypokalemic Periodic Paralysis (HOPP)-associated progressive interattack muscle weakness, who became unresponsive or worsened by acetazolamide, responded favorably to dichlorophenamide, a more potent carbonic anhydrase inhibitor [4].
• Mutations in the genes that encode the two proteins that coordinate this electrochemical conversion process (the DHPR and RyR1) result in a variety of skeletal muscle disorders including malignant hyperthermia (MH), central core disease (CCD), multiminicore disease, nemaline rod myopathy, and hypokalemic periodic paralysis [5].

High impact information on Hypokalemic Periodic Paralysis

• Dihydropyridine receptor mutations cause hypokalemic periodic paralysis [6].
• Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis [7].
• In the present work, we demonstrate the involvement of the muscular KATP channel in a skeletal muscle disorder known as hypokalemic periodic paralysis (HOPP), which is caused by mutations of the dihydropyridine receptor of the Ca2+ channel [7].
• Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels [8].
• Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis [9].

Chemical compound and disease context of Hypokalemic Periodic Paralysis

• Angiotensin I level and sporadic hypokalemic periodic paralysis [1].
• Following administration of glucose and insulin to three patients with hypokalemic periodic paralysis, serum K+ fell 1.9 mM [10].
• Hypokalemic periodic paralysis in chronic toluene exposure [11].
• We studied a patient with hypokalemic periodic paralysis to determine the effect of using 5% glucose as a diluent for potassium administration during acute attacks of weakness [12].
• The calcium channel blocker verapamil in hypokalemic periodic paralysis [13].

Biological context of Hypokalemic Periodic Paralysis

• Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) [14].
• Thyrotoxic hypokalemic periodic paralysis following second-trimester prostaglandin-induced abortion [15].
• Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families [16].
• In three families with hypokalemic periodic paralysis (HOPP) we have confirmed the presence of a missense mutation (arginine 528 to histidine) within the gene CACNL1A3 encoding the alpha 1 subunit of the L-type, voltage-sensitive calcium channel [17].

Gene context of Hypokalemic Periodic Paralysis

• Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation [18].
• BACKGROUND: Hypokalemic periodic paralysis is primarily caused by mutations within CACNA1S [19].
• A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis [2].
• We performed two multicenter, randomized, double-blind, placebo-controlled crossover trials, one involving 42 subjects with hypokalemic periodic paralysis (HypoPP) and the other involving 31 subjects with potassium-sensitive periodic paralysis (PSPP) [20].
• OBJECTIVE: To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S) [19].

Analytical, diagnostic and therapeutic context of Hypokalemic Periodic Paralysis

• In the present work, we investigated the mechanism of action of acetazolamide in the K-deficient diet rat, an animal model of human hypokalemic periodic paralysis (hypoPP) [21].

References