Format

Send to

Choose Destination
Brain Dev. 2015 Oct;37(9):907-10. doi: 10.1016/j.braindev.2015.01.003. Epub 2015 Feb 7.

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

Author information

1
Division of Paediatric Neurology/Developmental Behavioural Paediatrics/NeuroHabilitation, Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China. Electronic address: vcnwong@hku.hk.
2
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.

Abstract

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.

KEYWORDS:

ATP1A3; Alternating hemiplegia; Corticosteroid; Na, K-ATPase; Sodium/potassium-transporting ATPase

PMID:
25662428
DOI:
10.1016/j.braindev.2015.01.003
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center