Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
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ABSTRACT:
SUBMITTER: Ishida S
PROVIDER: S-EPMC5010101 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida Saeko S Picard Fabienne F Rudolf Gabrielle G Noé Eric E Achaz Guillaume G Thomas Pierre P Genton Pierre P Mundwiller Emeline E Wolff Markus M Marescaux Christian C Miles Richard R Baulac Michel M Hirsch Edouard E Leguern Eric E Baulac Stéphanie S
Nature genetics 20130331 5
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 additional families with focal epilepsies identified 4 nonsense mutations and 1 mis ...[more]
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