A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

Abstract Background Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we present a novel hete...

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Bibliographic Details
Main Authors: Xin Zhang, Shiyan Qiu, Li Yang, Yufen Li, Liyun Xu, Na Xu, Changrui Mi, Menglin Li
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
alternating hemiplegia of childhood
ATP1A2
mutation
Online Access:https://doi.org/10.1002/mgg3.2146

Internet

https://doi.org/10.1002/mgg3.2146

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