Mutations of DEPDC5 cause autosomal dominant focal epilepsies

The main familial focal epilepsies of childhood are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the DEPDC5 (DEP domain containing protein 5) gene was identified in a family with focal epi...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline, Wolff, Markus, Marescaux, Christian, Miles, Richard, Baulac, Michel, Hirsch, Edouard, Leguern, Eric, Baulac, Stéphanie
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5010101/
https://ncbi.nlm.nih.gov/pubmed/23542701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2601
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