A case report of alternating hemiplegia of childhood caused by ATP1A2 gene mutation
Objective To investigate the clinical characteristics of alternating hemiplegia of childhood(AHC)caused by ATP1A2 gene mutations.Methods A retrospective analysis was conducted on the clinical data of one AHC patient for dis-cussion.Results The patient was a 2-year-old male who started exhibiting episodes of alternating hemiplegia at 7 months of age.The episodes were accompanied by language impairment and improved after sleep.Genetic testing revealed a heterozy-gous mutation(c.2143G＞Cp.Gly715Arg)in the ATP1A2 gene.The patient was treated with oral flunarizine and experienced three recurrences within 2 years.Conclusion ATP1A2 gene mutations may result in febrile seizures as the initial symptom leading to alternating hemiplegia of childhood in children.Developing more effective treatment and prevention strategies,along with early prevention of acute encephalopathy and developmental delay,is the ultimate goal in diagnosing and treating AHC.
alternating hemiplegia of childhoodATP1A2ATP1A3Na+/K+-ATPaseATP
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