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

Long-term Follow Up of an Adult With Alternating Hemiplegia of Childhood and a p.Gly755Ser Mutation in the ATP1A3 Gene

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Case Reports

Long-term Follow Up of an Adult With Alternating Hemiplegia of Childhood and a p.Gly755Ser Mutation in the ATP1A3 Gene

Tomoshiro Ito et al. Brain Dev. .
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Abstract

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.

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