ATP1A3 gene mutations in patients with alternating hemiplegia of childhood

To analyze the ATP1A3 mutations in patients with alternating hemiplegia of childhood (AHC) and recognize its value in diagnosing atypical cases. Data of all AHC patients seen at Peking University First Hospital from August 2005 to November 2014 were prospectively collected. Clinical information of t...

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Bibliographic Details
Published inZhonghua er ke za zhi Vol. 53; no. 11; p. 835
Main Authors Yang, Xiaoling, Zhang, Yuehua, Yuan, Dawei, Xu, Xiaojing, Li, Shupin, Wei, Liping, Wu, Ye, Xiong, Hui, Liu, Xiaoyan, Bao, Xinhua, Jiang, Yuwu, Wu, Xiru
Format Journal Article
LanguageChinese
Published China 01.11.2015
Subjects
Child
Child, Preschool
DNA Mutational Analysis
Female
Hemiplegia - genetics
Humans
Infant
Infant, Newborn
Male
Mutation, Missense
Sodium-Potassium-Exchanging ATPase - genetics
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Summary:To analyze the ATP1A3 mutations in patients with alternating hemiplegia of childhood (AHC) and recognize its value in diagnosing atypical cases. Data of all AHC patients seen at Peking University First Hospital from August 2005 to November 2014 were prospectively collected. Clinical information of the AHC patients and their family members were collected and analyzed. Genomic DNAs were extracted from their peripheral blood. Mutations in ATP1A3 were screened by Sanger sequencing after PCR. A total of 78 AHC patients were recruited, including 50 males and 28 females. Only three patients had family history of AHC. The first family case had affected mother with AHC; the second family case was the older one of a monozygotic male twins with AHC but their parents were normal; the third family case had a sister with AHC but their parents were normal. The age of onset ranged from six hours to eight years and six months (median: 4 months). According to the Aicardi's clinical diagnostic criteria, 72 patients were conside
ISSN:0578-1310