ATP1A2 유전자의 돌연변이를 동반한 소아 교대성 편마비 1예

• 영문명: A case of alternating hemiplegia of childhood associated with de novo mutation in the ATP1A2 gene
• 발행기관: 조선대학교 의학연구원
• 저자명: 전우진(Woo Jin Jeon) 김용욱(Yong Wook Kim) 김경심(Kyoung Sim Kim) 조형민(Hyoung Min Cho) 김령(Young Kim) 장해인(Hae I
• 간행물 정보: 『The Medical Journal of Chosun University』제45권 제2호, 91~94쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2020.10.31

영문 초록

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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Alternating hemiplegia of childhood ATP1A2