Mutations of DEPDC5 cause autosomal dominant focal epilepsies
Nature genetics, 2013•nature.com
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 …
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 …
Abstract
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.
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