Article
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
Brain & development - 1 Mar 2018
Ito Tomoshiro, Narugami Masashi, Egawa Kiyoshi, Yamamoto Hiroyuki, Asahina Naoko, Kohsaka Shinobu, Ishii Atsushi, Hirose Shinichi, Shiraishi Hideaki
Abstract excerpt
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...
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