Heterozygous Mutation and Clinical Characteristics of ATP1A3 Gene c.2401(exo n17)G>A,c.1103C>T and c.2542+1G>A in Children with Epilepsy as the First Symptom
10.3969/j.issn.1671-7414.2025.06.022
- VernacularTitle:癫痫为首发症状儿童ATP1A3基因c.2401(exo n17)G>A,c.1103C>T和c.2542+1G>A发生杂合突变及临床特征分析
- Author:
Tingting SONG
1
;
Yun XIE
;
Yongsheng JIANG
;
Xiaoge ZHANG
Author Information
1. 西北妇女儿童医院 儿童神经内科,西安 710061
- Publication Type:Journal Article
- Keywords:
epilepsy;
ATPase Na+/K+transporting subunit alpha-3;
heterozygous mutations;
clinical features
- From:
Journal of Modern Laboratory Medicine
2025;40(6):122-125,136
- CountryChina
- Language:Chinese
-
Abstract:
Objective Explore the clinical and molecular genetic characteristics of children with epilepsy as the first symptom caused by mutations in the ATPase Na+/K+transporting subunit alpha-3(ATP1A3)gene.Methods Clinical data of 853 epilepsy patients who visited the Department of Pediatric Neurology at Northwest Women's and Children's Hospital from November 2021 to December 2023 were retrospectively collected.Among them,3 cases were diagnosed with ATP1A3 gene mutations.Next-generation sequencing(NGS)techniques was used to perform whole exome sequencing analysis on serum samples from ATP1A3 gene mutation patients,and Sanger sequencing method was used for mutation verification.Results The ATP1A3 gene mutation sites in three patients were c.2401(exo n17)G>A,c.1103C>T and c.2542+1G>A,all of which presented with epilepsy as the initial symptom,mainly manifested as seizures and loss of consciousness.Imaging examination shows no abnormalities or slight widening of the subarachnoid space in both frontal and temporal regions,with background slow waves appearing in the electroencephalogram.Seizure were relieved after treatment with antiepileptic drugs.Conclusion The heterozygous mutations c.1103C>T and c.2542+1G>A at the ATP1A3 gene locus are novel pathogenic variations in epilepsy,and further confirm that the c.2401(exon17)G>A heterozygous mutation can cause epilepsy symptoms in patients.The clinical phenotype of ATP1A3 gene mutation includes typical alternating hemiplegia and muscle tone disorders,as well as seizures and developmental delay.
