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UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
The causal gene(s) for familial adult myoclonic epilepsy (FAME) remains undetermined. To identify it, an exome analysis was performed for the proband in a Japanese FAME family. Of the 383 missense/nonsense variants examined, only c.5720G>A mutation (p.Arg1907His) in the UBR5 gene was found in all...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scholarly Research Network
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458293/ https://www.ncbi.nlm.nih.gov/pubmed/23029623 http://dx.doi.org/10.5402/2012/508308 |