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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,...

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Detalles Bibliográficos
Autores principales: Li, Yingji, Tang, Wenjing, Kang, Li, Kong, Shanshan, Dong, Zhao, Zhao, Dengfa, Liu, Ruozhuo, Yu, Shengyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Milan 2021
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

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