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Mutations of DEPDC5 cause autosomal dominant focal epilepsies
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies
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Journal Article
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
2013
Overview
Stéphanie Baulac and colleagues report the identification of mutations in the
DEPDC5
gene that cause focal epilepsies.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ 631/378
/ Adult
/ Analysis
/ Animal Genetics and Genomics
/ Child
/ Epilepsies, Partial - diagnosis
/ Epilepsies, Partial - genetics
/ Epilepsy
/ Female
/ Genes
/ Genetic Predisposition to Disease - genetics
/ Genetics
/ Genotype
/ Guanine Nucleotide Exchange Factors - genetics
/ Humans
/ letter
/ Male
/ Mutation
/ Pedigree
/ Proteins
