R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update

Familial hemiplegic migraine (FHM) type 1 is a rare monogenic dominant autosomal disease due to CACNA1A gene mutations. Besides the classical phenotype, mutations on CACNA1A gene are associated with a broader spectrum of clinical features including cerebellar ataxia, making FHM1 a complex channelopa...

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Detalles Bibliográficos
Autores principales: Di Cristofori, Andrea, Fusi, Laura, Gomitoni, Antonella, Grampa, Giampiero, Bersano, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Milan 2012
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381060/
https://www.ncbi.nlm.nih.gov/pubmed/22527033
http://dx.doi.org/10.1007/s10194-012-0444-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381060/
https://www.ncbi.nlm.nih.gov/pubmed/22527033
http://dx.doi.org/10.1007/s10194-012-0444-7

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