ATP1A3基因突变致儿童交替性偏瘫：2例病例报道

doi:10.24920/003850

摘要/Abstract

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。

关键词: ATP1A3基因, 儿童交替性偏瘫, 癫痫

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 theATP1A3 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.

Key words: ATP1A3 gene, alternating hemiplegia of childhood, epilepsy

Guange Yang, Zhongli Zhao, Yang Yang, Li Lin, Conglei Song, Xiaocui Wang, Bin Yang. Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases[J].Chinese Medical Sciences Journal, 2021, 36(2): 150-157.

图/表 4

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No.	Mutation	Report	Amino acid change	Source of mutation	Rs number	1000 Genomes/GnomAD/ESP	SIFT/PolyPhen	GERP	ACMG guideline
Case 1	c.3025A>G	Not	p.K1009E(NM _001256214)	de novo	None	NA/NA/NA	Damaging (0.001)/possibly damaging (0.651)	D (3.32)	Likely pathogenic (PS2+PM1+PM2+PP3)
Case 2	c.2443G>A	Yes	p.E815K (NM_152296)	de novo	rs387907281	NA/NA/NA	Damaging (0.001)/porobably damaging (1.0)	D (3.69)	Pathogenic (PS2+PS1+PM+PM1+PM2+PM+PP5)

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