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- 학술저널
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- 2020.1
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Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent paroxysmal hemiplegic attacks that affect one or the other side of the body. Up to 74% of patients with AHC have a pathologic variant in the ATP1A3 gene. After the introduction of next-generation sequencing, intermediate cases and atypical cases have expanded the clinical spectrum of ATP1A3-related disorders. Herein, we report the first case of AHC in Korea. A 33-year-old man visited our hospital with recurrent hemiplegic and dystonic episode after his first birthday. He was completely normal between episodes and did not have any ataxia, but brain magnetic resonance imaging showed cerebellar atrophy. He also had pes planovalgus deformity. Whole exome sequencing revealed a heterozygous G947R variant in the ATP1A3 gene (c.2839G > C, rs398122887), which is a known pathologic variant. This atypical case of AHC demonstrates the importance of the clinical approach in diagnosing ATP1A3-related disorders.
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참고문헌 (12)
참고문헌 신청
Carecchio M / 2018 / ATP1A3-related disorders : an update / Eur J Paediatr Neurol 22(2):257~263
Heinzen EL / 2012 / De novo mutations in ATP1A3cause alternating hemiplegia of childhood / Nat Genet 44(9):1030~1034
Yang X / 2014 / ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients / PLoS One 9(5):e97274
Sweadner KJ / 2019 / Genotype-structurephenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3 / Neurol Genet 5(1):e303
Sasaki M / 2017 / Progressive brain atrophy in alternating hemiplegia of childhood / Mov Disord Clin Pract(Hoboken) 4(3):406~411
Heinzen EL / 2012 / De novo mutations in ATP1A3cause alternating hemiplegia of childhood / Nat Genet 44(9):1030~1034
Yang X / 2014 / ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients / PLoS One 9(5):e97274
Sweadner KJ / 2019 / Genotype-structurephenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3 / Neurol Genet 5(1):e303
Sasaki M / 2017 / Progressive brain atrophy in alternating hemiplegia of childhood / Mov Disord Clin Pract(Hoboken) 4(3):406~411
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