%A Guange Yang, Zhongli Zhao, Yang Yang, Li Lin, Conglei Song, Xiaocui Wang, Bin Yang %T Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases %0 Journal Article %D 2021 %J Chinese Medical Sciences Journal %R 10.24920/003850 %P 150-157 %V 36 %N 2 %U {http://cmsj.cams.cn/CN/abstract/article_3300.shtml} %8 2021-06-30 %X

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.