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- W2023453938 abstract "<h3>Objective:</h3> To identify other causative genes for Andersen–Tawil syndrome, which is characterized by a triad of periodic paralysis, cardiac arrhythmia, and dysmorphic features. Andersen–Tawil syndrome is caused in a majority of cases by mutations in <i>KCNJ2</i>, which encodes the Kir2.1 subunit of the inwardly rectifying potassium channel. <h3>Methods:</h3> The proband exhibited episodic flaccid weakness and a characteristic TU-wave pattern, both suggestive of Andersen–Tawil syndrome, but did not harbor <i>KCNJ2</i> mutations. We performed exome capture resequencing by restricting the analysis to genes that encode ion channels/associated proteins. The expression of gene products in heart and skeletal muscle tissues was examined by immunoblotting. The functional consequences of the mutation were investigated using a heterologous expression system in <i>Xenopus</i> oocytes, focusing on the interaction with the Kir2.1 subunit. <h3>Results:</h3> We identified a mutation in the <i>KCNJ5</i> gene, which encodes the G-protein–activated inwardly rectifying potassium channel 4 (Kir3.4). Immunoblotting demonstrated significant expression of the Kir3.4 protein in human heart and skeletal muscles. The coexpression of Kir2.1 and mutant Kir3.4 in <i>Xenopus</i> oocytes reduced the inwardly rectifying current significantly compared with that observed in the presence of wild-type Kir3.4. <h3>Conclusions:</h3> We propose that <i>KCNJ5</i> is a second gene causing Andersen–Tawil syndrome. The inhibitory effects of mutant Kir3.4 on inwardly rectifying potassium channels may account for the clinical presentation in both skeletal and heart muscles." @default.
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- W2023453938 date "2014-02-26" @default.
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- W2023453938 title "A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1" @default.
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- W2023453938 doi "https://doi.org/10.1212/wnl.0000000000000239" @default.
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