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Article

T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.

Journal of molecular and cellular cardiology - 1 Aug 2007

Tani Yoshinori, Miura Daiji, Kurokawa Junko, Nakamura Kazufumi, Ouchida Mamoru, Shimizu Kenji, Ohe Tohru, Furukawa Tetsushi

Abstract excerpt

Andersen-Tawil syndrome (ATS) is a multisystem inherited disease exhibiting periodic paralysis, cardiac arrhythmias, and dysmorphic features. In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation. Confocal imaging of GFP-KCNJ2 fusion proteins showed that the T75M mutation...

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Source

Identifiers

PMID: 17582433
DOI: 10.1016/j.yjmcc.2007.05.005

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.PMID 17582433Read ↗

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