Alternating Hemiplegia of Childhood with ATP1A3 Gene Mutation- A Case Report

Authors

  • Rumana Islam MD, Phase-B, Pediatric Neurology & Neurodevelopment, Department of Pediatric Neurology, BSMMU, Dhaka, Bangladesh
  • Kanij Fatema Associate Professor, Department of Pediatric Neurology, BSMMU, Dhaka, Bangladesh
  • Md Mizanur Rahman Ex-Chairman and Professor, Department of Pediatric Neurology, BSMMU, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bjch.v45i3.62896

Keywords:

Alternate Hemiplegia of childhood, ATP1A3, Mutation

Abstract

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder manifested by transient repeated episodes of alternating hemiplegia associated with other neurological events. Though the exact etiology was largely unknown, recently the pathogenic mutation in the ATP1A3 gene encoding for the alpha3 catalytic subunit of Na+/ K+ATPase was found to be the primary cause of AHC. We present the case of 8.5 year old girl with AHC who had a heterozygous de-novo p.Leu839Pro (c.2516T>C) pathogenic mutation of ATP1A3 gene on chromosome 19q13.

BANGLADESH J CHILD HEALTH 2021; VOL 45 (3) : 175-177

Downloads

Download data is not yet available.
Abstract
25
PDF
45

Downloads

Published

2022-11-20

How to Cite

Islam, R. ., Fatema, K. ., & Rahman, M. M. . (2022). Alternating Hemiplegia of Childhood with ATP1A3 Gene Mutation- A Case Report. Bangladesh Journal of Child Health, 45(3), 175–177. https://doi.org/10.3329/bjch.v45i3.62896

Issue

Vol. 45 No. 3 (2021)

Section

Case Reports