Encephalopathy with Neuroserpin Inclusion Bodies Presenting as Progressive Myoclonus Epilepsy and Associated with a Novel Mutation in the Proteinase Inhibitor 12 Gene

Neuroserpin encephalopathy is an autosomal‐dominant degenerative disease associated with mutations in the Proteinase Inhibitor 12 (PI12) gene. A 26‐year‐old male presented with progressive myoclonus epilepsy and declining mental status. He had failed in university studies because of impaired attenti...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hagen, Matthew C., Murrell, Jill R., Delisle, Marie‐Bernadette, Andermann, Eva, Andermann, Frederick, Guiot, Marie Christine, Ghetti, Bernardino
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2011
Assuntos:
Miscellaneous
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709456/
https://ncbi.nlm.nih.gov/pubmed/21435071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2011.00481.x
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados