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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...
Autores principales: | Zhang, Xin, Qiu, Shiyan, Yang, Li, Li, Yufen, Xu, Liyun, Xu, Na, Mi, Changrui, Li, Menglin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
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 |
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