Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene

Brain Dev. 2018 Mar;40(3):226-228. doi: 10.1016/j.braindev.2017.11.007.


Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.G755S) mutation, one of minor genotypes for AHC, were recently described as having a mild phenotype, although their long-term outcomes are still unclear due to the lack of long-term follow up. Here, we demonstrate the full clinical course of a 43-year-old female AHC patient with p.G755S mutation. Although her motor dysfunction had been relatively mild into her 30 s, she showed a subsequent severe aggravation of symptoms that left her bedridden, concomitant with a recent recurrence of seizure status. The seizures were refractory to anti-epileptic drugs, but administration of flunarizine improved seizures and the paralysis. Our case suggests that the phenotype of AHC with p.G755S mutation is not necessarily mild, despite such a presentation during the patient's younger years.

Keywords: ATP1A3 gene; Alternating hemiplegia of childhood; Epilepsy; Flunarizine; Long-term prognosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Glycine / genetics*
  • Hemiplegia / diagnostic imaging
  • Hemiplegia / genetics*
  • Humans
  • Longitudinal Studies
  • Mutation / genetics*
  • Neuroimaging
  • Phenotype
  • Serine / genetics*
  • Sodium-Potassium-Exchanging ATPase / genetics*


  • ATP1A3 protein, human
  • Serine
  • Sodium-Potassium-Exchanging ATPase
  • Glycine

Supplementary concepts

  • Alternating hemiplegia of childhood