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Article

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.

Canadian journal of physiology and pharmacology - 1 Jul 2015

Ördög Balázs, Hategan Lidia, Kovács Mária, Seprényi György, Kohajda Zsófia, Nagy István, Hegedűs Zoltán, Környei László, Jost Norbert, Katona Márta, Szekeres Miklós, Forster Tamás, Papp Julius Gy, Varró András, Sepp Róbert

Abstract excerpt

Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. Clinical manifestations of the disease appear to vary greatly with the nature of mutation, therefore, functional characterisation of ATS-causing mutations...

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Identifiers

PMID: 26103554
DOI: 10.1139/cjpp-2014-0527

Genes

KCNJ2

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