Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
A missense variant (R83H) of the gene (KCNE3) encoding a potassium channel-associated peptide, MinK-related peptide 2 (MiRP2), has been reported in periodic paralysis patients. In the current study, no difference in the frequency of the MiRP2-R83H variant between periodic paralysis patients and healthy individuals was found. Furthermore, there was no segregation of this gene variant with the disease. These observations weaken the proposal that MiRP2-R83H causes periodic paralysis.
D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D020090:Chromosome Segregation; D005260:Female; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010245:Paralyses, Familial Periodic / Q000235:genetics*; D020513:Paralysis, Hyperkalemic Periodic / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000737:chemistry / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D015222:Sodium Channels / Q000235:genetics; D013971:Thyrotoxicosis / Q000097:blood / Q000150:complications
C418492:KCNE3 protein, human; D062553:NAV1.4 Voltage-Gated Sodium Channel; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C106251:SCN4A protein, human; D015222:Sodium Channels