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

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 heterozygous...

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Detalles Bibliográficos
Autores principales: Zhang, Xin, Qiu, Shiyan, Yang, Li, Li, Yufen, Xu, Liyun, Xu, Na, Mi, Changrui, Li, Menglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178798/
https://www.ncbi.nlm.nih.gov/pubmed/36749827
http://dx.doi.org/10.1002/mgg3.2146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178798/
https://www.ncbi.nlm.nih.gov/pubmed/36749827
http://dx.doi.org/10.1002/mgg3.2146

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