Dataset Information

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 p.Asn743Ser. The clinical phenotypes of three mutations differed from those in previous reports: p.Arg597Pro, p.Thr769Pro, and p.Arg756Cys. One of the two patients who started a ketogenic diet experienced seizure provocation and so immediate stopped consuming the diet, while the other patient continued the ketogenic diet for 1 year, but this produced no clear benefit such as reduction of paroxysmal symptoms. CONCLUSIONS:Our study is the first case series of ATP1A3-related disorders to be described in Korea and which further expands the understanding of its genotype-phenotype spectrum. A ketogenic diet showed no clear benefit for the patients with AHC.

SUBMITTER: Kim WJ

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

REPOSITORIES: biostudies-literature

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Clinical and Genetic Spectrum of <i>ATP1A3</i>-Related Disorders in a Korean Pediatric Population.

Kim Woo Joong WJ Shim Young Kyu YK Choi Sun Ah SA Kim Soo Yeon SY Kim Hunmin H Hwang Hee H Choi Jieun J Kim Ki Joong KJ Chae Jong Hee JH Lim Byung Chan BC

Journal of clinical neurology (Seoul, Korea) 20200101 1

<h4>Background and purpose</h4>The aim of this study was to expand the understanding of the genotype-phenotype spectrum of <i>ATP1A3</i>-related disorders and to evaluate the therapeutic effect of a ketogenic diet in patients with alternating hemiplegia of childhood (AHC).<h4>Methods</h4>The clinical information of 13 patients with <i>ATP1A3</i> mutations was analyzed by performing retrospective chart reviews. Patients with the AHC phenotype who consented to ketogenic diet were included in the t ...[more]

PMID: 31942761

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Dataset Information

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

Publications

Clinical and Genetic Spectrum of <i>ATP1A3</i>-Related Disorders in a Korean Pediatric Population.

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