Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population.

ABSTRACT: BACKGROUND AND PURPOSE:The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet in patients with alternating hemiplegia of childhood (AHC). METHODS:The clinical information of 13 patients with ATP1A3 mutations was analyzed by performing retrospective chart reviews. Patients with the AHC phenotype who consented to ketogenic diet were included in the trial. RESULTS:Ten patients presented with the clinical phenotype of AHC, two patients presented with rapid-onset dystonia parkinsonism, and one patient presented with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Two novel mutations of the AHC phenotype were identified: p.Ile363Thr and

SUBMITTER: Kim WJ 

PROVIDER: S-EPMC6974827 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature