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Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Chunxiang Fan,Marius Kuhn, Alexander Pepler Mbiol,James Groome,Vern Winston,Saskia Biskup,Frank Lehmann-Horn,Karin Jurkat-Rott

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology（2018）

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Abstract
The electrophysiological findings of p.Thr140Met are similar to those found in thyrotoxic PP caused by Kir2.6 mutations. Also, the homologous Thr140 residue is mutated in Kir2.6. This supports the idea that Kir2.2 p.Thr140Met conveys susceptibility to SPP and should be included in genetic screening.
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Key words
Kir2.1 channel,Kir2.2 channel,hetero-tetramer,periodic paralysis,susceptibility gene
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