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 epi...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.展开更多
基金Research Fund of Anhui Medical University(Grant Number:2019xkj176).
文摘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.
