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

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.