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

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

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...

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Bibliographic Details
Main Authors: Danping Huang, Min Liu, Hongying Wang, Bingbing Zhang, Dongjing Zhao, Weihao Ling, Manli Wang, Jun Feng, Yiping Shen, Xuqin Chen
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Medical Genomics
Subjects:
Alternating hemiplegia of childhood
ATP1A2
De novo
Variant classification
Online Access:https://doi.org/10.1186/s12920-021-00947-6

Internet

https://doi.org/10.1186/s12920-021-00947-6

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