De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report

• Main Authors: Danping Huang (Author), Min Liu (Author), Hongying Wang (Author), Bingbing Zhang (Author), Dongjing Zhao (Author), Weihao Ling (Author), Manli Wang (Author), Jun Feng (Author), Yiping Shen (Author), Xuqin Chen (Author)
• Format: Book
• Published: BMC, 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 pr...