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

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...

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Detalles Bibliográficos
Autores principales: Huang, Danping, Liu, Min, Wang, Hongying, Zhang, Bingbing, Zhao, Dongjing, Ling, Weihao, Wang, Manli, Feng, Jun, Shen, Yiping, Chen, Xuqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017680/
https://www.ncbi.nlm.nih.gov/pubmed/33794876
http://dx.doi.org/10.1186/s12920-021-00947-6

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