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Article

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.

Journal of the neurological sciences - 15 Dec 2019

Fukumura Shinobu, Yamauchi Kosuke, Kawanabe Akira, Yamamoto Akiyo, Nakaza Maki, Kubota Tomoya, Kato Shinsuke, Sasaki Ryogen, Okamura Yasushi, Takahashi Masanori P

Abstract excerpt

Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy with autosomal dominant inheritance resulting in periodic paralysis, arrhythmia characterized by QT prolongation, and dysmorphic features. The KCNJ2 gene has been identified as the causative gene of ATS. Herein, we reported 2 cases of a 21-year-old man and his mother, with episodic paralytic attacks and/or arrhythmia, which are characteristic of...

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PMID: 31669729
DOI: 10.1016/j.jns.2019.116521

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