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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Bibliografski detalji
Izdano u:Nat Genet
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: 2013
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Article
Online pristup: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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