Case report: A Chinese child with Andersen–Tawil syndrome due to a de novo KCNJ2 mutation

Highlights • We identified one de novo novel mutation in KCNJ2 gene in a Chinese patient with Andersen–Tawil syndrome. • The patient demonstrated left ventricular hypertrophy in the echocardiography. • The patient had no concomitant cardiac symptom and abnormity in ECG.

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Bibliographic Details
Published in:Journal of the neurological sciences 2015-05, Vol.352 (1), p.105-106
Main Authors: Liu, Xiao-li, Huang, Xiao-jun, Luan, Xing-hua, Zhou, Hai-yan, Wang, Tian, Wang, Jing-yi, Shen, Jun-yi, Chen, Sheng-di, Tang, Hui-dong, Cao, Li
Format: Article
Language:English
Subjects:
Andersen Syndrome - diagnosis
Andersen Syndrome - genetics
Andersen Syndrome - physiopathology
Andersen–Tawil syndrome
Child
China
Electrocardiography
Humans
KCNJ2
Male
Mutation
Neurology
Periodic paralysis
Potassium Channels, Inwardly Rectifying - genetics
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Description
Summary:Highlights • We identified one de novo novel mutation in KCNJ2 gene in a Chinese patient with Andersen–Tawil syndrome. • The patient demonstrated left ventricular hypertrophy in the echocardiography. • The patient had no concomitant cardiac symptom and abnormity in ECG.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2015.02.027