ATP1A3基因突变致儿童交替性偏瘫：2例病例报道

杨广娥; 赵忠礼; 杨阳; 林丽; 宋丛磊; 汪晓翠; 杨斌

doi:10.24920/003850

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ATP1A3基因突变致儿童交替性偏瘫：2例病例报道

中国医学科学杂志（英文版） 2021年36卷第2期页码：150-157

Case Reports | Updated：2024-04-10

- ATP1A3基因突变致儿童交替性偏瘫：2例病例报道
- Affiliations：
  
  Medical Department of Neurology, Anhui Provincial Children’s Hospital, Hefei 230053, China
- Author bio：
  
  *Tel: 86-551-62237720, E-mail: guangeyang@163.com
- Funds：
  
  Research Fund of Anhui Medical University(2019xkj176)
- DOI：10.24920/003850
  中图分类号：
- 收稿日期：2021-02-10，
  
  网络出版日期：2021-05-31，
  
  纸质出版日期：2021-06-30
- Accepted：
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杨广娥, 赵忠礼, 杨阳, 等. ATP1A3基因突变致儿童交替性偏瘫：2例病例报道[J]. 中国医学科学杂志（英文版）, 2021,36(2):150-157.

Yang Guange, Zhao Zhongli, Yang Yang, et al. Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases[J]. Chinese medical sciences journal, 2021, 36(2): 150-157.
杨广娥, 赵忠礼, 杨阳, 等. ATP1A3基因突变致儿童交替性偏瘫：2例病例报道[J]. 中国医学科学杂志（英文版）, 2021,36(2):150-157. DOI： 10.24920/003850.

Yang Guange, Zhao Zhongli, Yang Yang, et al. Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases[J]. Chinese medical sciences journal, 2021, 36(2): 150-157. DOI： 10.24920/003850.

摘要

儿童交替性偏瘫是一种罕见的神经发育性异常

绝大多数为散发病例

极少数有家族史。我院收治2例男性患儿

6~7月龄时开始癫痫发作

表现为反复发作性全身无力或一侧肢体偏瘫。基因检测显示两患儿均携带

ATP1A3

基因杂合缺失突变（OMIM:614820）：c.3025（exon 22）A

G（p.K1009E）和c.2443（exon 18）G

A（p.E815K）。氟桂利嗪可以显著改善交替性偏瘫患儿的发作性运动症状。

Abstract

Alternating hemiplegia of childhood is a rare neurodevelopmental disorder. Most cases are reported as sporadic disorder due to

de novo

variants

and few with family members involved. Two boys were hospitalized due to epileptic seizures occurred initially at age of six to seven months. During the course of the disease

there were repeated episodes of paroxysmal weakness or paralysis affecting one side of the body. Genetic testing showed that both patients carried heterozygous missense mutations in the

ATP1A3

gene (OMIM: 614820): c.3025 (exon 22) A

G (p.K1009E) and c.2443 (exon 18) G

A (p.E815K). Flunarizine can significantly improve the paroxysmal motor symptoms of pediatric patients with alternating hemiplegia.

关键词

Keywords

references

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