Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood

Katarzyna Wojciechowska; Agata Pikulicka; Olga Drgas; Żaneta Brudkowska; Iwona Żarnowska

doi:10.5114/polp.2023.131763

eISSN: 2300-8660
ISSN: 0031-3939

Pediatria Polska - Polish Journal of Paediatrics

Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

3/2023
vol. 98

Send email

Copy url:

abstract:

Case report

Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood

Katarzyna Wojciechowska

¹

,

Agata Pikulicka

²

,

Olga Drgas

³

,

Żaneta Brudkowska

⁴

,

Iwona Żarnowska

⁴

Independent Laboratory of Genetic Diagnostic, Medical University of Lublin, Lublin, Poland
Internal Disease Department, Warsaw Southern Hospital, Warsaw, Poland
MedGen Medical Centre, Warsaw, Poland.
Department of Pediatric Neurology, Medical University of Lublin, Lublin, Poland

Pediatr Pol 2023; 98 (3): 258-263

DOI: https://doi.org/10.5114/polp.2023.131763

Online publish date: 2023/09/29

View full text Get citation

PlumX metrics:

Alternating hemiplegia of childhood (AHC) is characterized by recurrent hemiplegic episodes and paroxysmal disorders, dystonia, nystagmus, epileptic seizure, mental retardation, and intellectual impairment. Alternating hemiplegia of childhood is caused by pathogenic variants in the genes encoding α-1, -2, and -3 subunits of Na,K-ATPase. Among them, pathogenic variants in ATP1A3 are responsible for almost 80% of cases. The aim of our study was to present a patient with de novo ATP1A2 mutation as the primary cause of AHC and to study the spectrum of phenotypes associated with mutation in this gene. Our study presents a case of a 9-year-old boy who was correctly diagnosed with AHC at the age of 8 years. The example of our patient proves that pathogenic variants in ATP1A2 correlate with milder phenotype.

keywords:

Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood

Katarzyna Wojciechowska 1 , Agata Pikulicka 2 , Olga Drgas 3 , Żaneta Brudkowska 4 , Iwona Żarnowska 4

hemiplegia, ATP1A2, alternating hemiplegia of childhood

Katarzyna Wojciechowska

¹

,

Agata Pikulicka

²

,

Olga Drgas

³

,

Żaneta Brudkowska

⁴

,

Iwona Żarnowska

⁴