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- W4387060420 abstract "Abstract Inwardly rectifying potassium channels (K ir ) allow potassium (K+) to easily move into cells. They are implicated in several diverse physiological processes throughout the body. KCNJ16 associated tubulopathy and deafness affects a subset of K ir transport channels. This disease was first described in 2021, amongst a cohort of 9 patients in total. Sudden cardiac arrest has been described as a presenting symptom of tubulopathy previously. We report the case of an infant who presented with sudden cardiac arrest (SCA) aged 7 months secondary to severe hypokalaemia. Singleton exome analysis identified apparent homozygous missense variants in KCNJ16 (c.409C>G; p.R137G). To our knowledge, this is the first description of sudden cardiac arrest at presentation in this form of tubulopathy." @default.
- W4387060420 created "2023-09-27" @default.
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- W4387060420 date "2023-09-26" @default.
- W4387060420 modified "2023-09-27" @default.
- W4387060420 title "KCNJ16 associated Hypokalaemic Tubulopathy and Deafness presenting with Sudden Cardiac Arrest." @default.
- W4387060420 cites W2048988573 @default.
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- W4387060420 doi "https://doi.org/10.21203/rs.3.rs-3366658/v1" @default.
- W4387060420 hasPublicationYear "2023" @default.
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