ATP1A3 Gene Mutation Causing Alternating Hemiplegia of Childhood: A Rare Case Report and Literature Review

Authors

DOI:

https://doi.org/10.3329/jninb.v10i1.75458

Keywords:

Alternating hemiplegia of childhood, dystonic spell, hemiplegia, ATP1A3 gene

Abstract

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent attacks of hemiplegia affecting either side of the body, oculomotor and autonomic disturbances, movement disorders, and progressive cognitive impairment. Herein we reported a case who presented with developmental delay, abnormal eye movement, dystonic attack, episodes of alternating hemiplegia, and multifocal seizures. Investigations performed including, MRA of the brain, EEG as well as metabolic evaluation, were normal. A genetic study revealed a mutation in the ATP1A3 gene (c.2878G>A) associated with AHC-2. Based on history, examination, and genetic study, a diagnosis of Alternating hemiplegia of childhood was ascertained.

Journal of National Institute of Neurosciences Bangladesh, January 2024;10(1):70-74

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Published

2025-02-02

How to Cite

Happy, R. A., Debnath, B., & Saha, N. C. (2025). ATP1A3 Gene Mutation Causing Alternating Hemiplegia of Childhood: A Rare Case Report and Literature Review. Journal of National Institute of Neurosciences Bangladesh, 10(1), 70–74. https://doi.org/10.3329/jninb.v10i1.75458

Issue

Vol. 10 No. 1 (2024)

Section

Case Reports

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Copyright (c) 2024 RomanaAkter Happy, Bithi Debnath, Narayan Chandra Saha

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