Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Milan
2012
|
| Materias: | |
| 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 |