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Article

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

Neurology - 25 Mar 2014

Kokunai Yosuke, Nakata Tomohiko, Furuta Mitsuru, Sakata Souhei, Kimura Hiromi, Aiba Takeshi, Yoshinaga Masao, Osaki Yusuke, Nakamori Masayuki, Itoh Hideki, Sato Takako, Kubota Tomoya, Kadota Kazushige, Shindo Katsuro, Mochizuki Hideki, Shimizu Wataru, Horie Minoru, Okamura Yasushi, Ohno Kinji, Takahashi Masanori P

Abstract excerpt

OBJECTIVE: 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 KCNJ2, which encodes the Kir2.1 subunit of the i...

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Source

Identifiers

PMID: 24574546
DOI: 10.1212/WNL.0000000000000239

Genes

KCNJ2
KCNJ5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24574546-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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