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KMID : 1148020200450020091
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조선대학교의대논문집
2020 Volume.45 No. 2 p.91 ~ p.94
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A case of alternating hemiplegia of childhood associated with de novo mutation in the ATP1A2 gene
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Jeon Woo-Jin
Kim Yong-Wook
Kim Kyoung-Sim
Cho Hyoung-Min
Kim Young
Jang Hae-In
Kim Eun-Young
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Abstract
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Alternating hemiplegia of childhood (AHC) is a neurological disorder characterized by recurrent paroxysmal hemiplegic episodes that involve either or both sides of the body. We experienced AHC with typical clinical features such as recurrent alternating hemiplegia, dystonic spells, abnormal eye movement and developmental delay before 18 months after birth. And we found a heterozygous Ala297Thr variant, missense de novo mutation in the ATP1A2 genetic test. Although AHC is a rare disease, it is expected that the prognosis for development will be good if we are well aware of the characteristics of the disease, perform early diagnosis and management. Here we report a review of the literature, including genetic advances on AHC.
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KEYWORD
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Alternating hemiplegia of childhood, ATP1A2
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