2024-03-29T07:11:56Zhttps://eprints.lib.hokudai.ac.jp/dspace-oai/requestoai:eprints.lib.hokudai.ac.jp:2115/727312022-11-17T02:08:08Zhdl_2115_20043hdl_2115_137Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 geneLong-term follow up of AHCIto, TomoshiroNarugami, MasashiEgawa, KiyoshiYamamoto, HiroyukiAsahina, NaokoKohsaka, ShinobuIshii, AtsushiHirose, Shinichi1000080374411Shiraishi, Hideakiopen access© 2018. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalAlternating hemiplegia of childhoodFlunarizineATP1A3 geneEpilepsyLong-term prognosis490Alternating 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.Elsevier2018-03engjournal articleAMhttp://hdl.handle.net/2115/72731https://doi.org/10.1016/j.braindev.2017.11.007292690140387-7604Brain & development403226228https://eprints.lib.hokudai.ac.jp/dspace/bitstream/2115/72731/1/BrainDev40_226.pdfapplication/pdf202.47 KB2018-03