Article
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Nature genetics - 1 May 2013
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
Abstract excerpt
The main familial focal epilepsies are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the DEPDC5 gene (encoding DEP domain-containing protein 5) was identified in a family with focal epilepsy with variable foci by linkage analysis and exome sequencing. Subsequent pyrosequencing of DEPDC5 in a cohort of 15...
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