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Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms
BACKGROUND: Mutations in ATP1A2, the gene encoding the α2 subunit of Na(+)/K(+)-ATPase, are the main cause of familial hemiplegic migraine type 2 (FHM2). The clinical presentation of FHM2 with mutations in the same gene varies from pure FHM to severe forms with epilepsy and intellectual disability,...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Milan
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359390/ https://www.ncbi.nlm.nih.gov/pubmed/34384358 http://dx.doi.org/10.1186/s10194-021-01309-4 |