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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Nat Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2013
Aiheet:
Article
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia