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Article

A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.

Journal of human genetics - 1 Mar 2010

Chan Hoi-Fong, Chen Meng-Ling, Su Jen-Jen, Ko Li-Chin, Lin Chin-Hsien, Wu Ruey-Meei

Abstract excerpt

Andersen-Tawil syndrome (ATS) is a rare familial potassium channelopathy characterized by the clinical triad of periodic paralysis, cardiac arrhythmia and dysmorphic facial/skeletal features. The majority of ATS patients are caused by mutations of the KCNJ2 gene, which encodes the inward-rectifying potassium channel protein Kir2.1. However, the effects of the KCNJ2 mutation on the central nervous system are...

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Source

Identifiers

PMID: 20111058
DOI: 10.1038/jhg.2010.2

Genes

KCNJ2

Variants

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