Mutations of DEPDC5 cause autosomal dominant focal epilepsies

作者：Ishida Saeko; Picard Fabienne; Rudolf Gabrielle; Noe Eric; Achaz Guillaume; Thomas Pierre; Genton Pierre; Mundwiller Emeline; Wolff Markus; Marescaux Christian; Miles Richard; Baulac Michel; Hirsch Edouard; Leguern Eric; Baulac Stephanie^*

来源：Nature Genetics, 2013, 45(5): 552-U128.

DOI：10.1038/ng.2601

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 missense mutation. Our findings provided evidence of frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies. The implication of a DEP (Dishevelled, Egl-10 and Pleckstrin) domain-containing protein that may be involved in membrane trafficking and/or G protein signaling opens new avenues for research.

• 出版日期2013-5