Abstract
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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Substitution*
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Child
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Chromosome Segregation
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Female
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Humans
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Hypokalemic Periodic Paralysis / genetics
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Male
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Mutation, Missense*
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NAV1.4 Voltage-Gated Sodium Channel
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Paralyses, Familial Periodic / genetics*
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Paralysis, Hyperkalemic Periodic / genetics
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Pedigree
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Point Mutation*
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Polymorphism, Single-Stranded Conformational
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Potassium Channels / chemistry
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Potassium Channels / genetics*
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Potassium Channels, Voltage-Gated*
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Sodium Channels / genetics
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Thyrotoxicosis / blood
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Thyrotoxicosis / complications
Substances
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KCNE3 protein, human
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NAV1.4 Voltage-Gated Sodium Channel
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Potassium Channels
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Potassium Channels, Voltage-Gated
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SCN4A protein, human
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Sodium Channels