ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment?

被引：8

作者：

Wong, Virginia C. N. ^{[1
]}

Kwong, Anna K. Y. ^{[2
]}

机构：

[1] Univ Hong Kong, Li Ka Shing Fac Med, Dept Paediat & Adolescent Med, Div Paediat Neurol Dev Behav Paediat NeuroHabilit, Hong Kong, Hong Kong, Peoples R China

[2] Univ Hong Kong, Li Ka Shing Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China

来源：

BRAIN & DEVELOPMENT | 2015年 / 37卷 / 09期

关键词：

Alternating hemiplegia; Sodium/potassium-transporting ATPase; Na; K-ATPase; ATP1A3; Corticosteroid; DE-NOVO MUTATIONS; MESSENGER-RNA; MIGRAINE; GENE;

D O I：

10.1016/j.braindev.2015.01.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: This Chinese girl had alternating hemiplegia of childhood (AHC) since 2 months. She failed to respond to anticonvulsants, antimigrainous drugs and calcium channel blockers but achieved complete remission steroid treatment for 4 weeks and relapsed after stopping steroid. Purpose: In order to clarify the unknown etiology, genetic analysis of ATP1A3 gene, which encodes the alpha3-subunit of the sodium/potassium-transporting ATPase (Na, K-ATPase), has been done by Sanger sequencing. Results: A de novo heterozygous missense mutation (c.2401G>A; p.D801N) was identified in exon 17 of ATP1A3 gene and this is one of the hotspot mutations found in AHC patients. Conclusion: It will be interesting to further investigate whether Na, K-ATPase was the target of corticosteroid treatment. (C) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

引用

页码：907 / 910

页数：4

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