Chinese Medical Sciences Journal ›› 2021, Vol. 36 ›› Issue (2): 150-157.doi: 10.24920/003850

• Case Reports • Previous Articles     Next Articles

Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases

Guange Yang(), Zhongli Zhao, Yang Yang, Li Lin, Conglei Song, Xiaocui Wang, Bin Yang   

  1. Medical Department of Neurology, Anhui Provincial Children’s Hospital, Hefei 230053, China
  • Received:2021-02-10 Published:2021-06-30 Online:2021-05-31
  • Contact: Guange Yang
The authors reported two boys with alternating hemiplegia who 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), a primary pathogenic gene for alternating hemiplegia of childhood.

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

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