Article
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.
BMC medical genomics - 1 Apr 2021
Huang Danping, Liu Min, Wang Hongying, Zhang Bingbing, Zhao Dongjing, Ling Weihao, Wang Manli, Feng Jun, Shen Yiping, Chen Xuqin
Abstract excerpt
BACKGROUND: ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far. CASE PRESENTATION: We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both patients presented with episodes of alternating hemiplegia, seizures and mild developmental delay. Brain magnetic resonance imaging revealed...
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