@article{ishida_mutations_2013,
Author = {Ishida, Saeko and Picard, Fabienne and Rudolf,
Gabrielle and Noé, Eric and Achaz, Guillaume and
Thomas, Pierre and Genton, Pierre and Mundwiller,
Emeline and Wolff, Markus and Marescaux, Christian and
Miles, Richard and Baulac, Michel and Hirsch, Edouard
and Leguern, Eric and Baulac, Stéphanie},
Title = {Mutations of {DEPDC}5 cause autosomal dominant focal
epilepsies},
Journal = {Nature Genetics},
Volume = {45},
Number = {5},
Pages = {552--555},
Keywords = {Adolescent, Adult, Amino Acid Sequence, Brain,
Case-Control Studies, Child, Cohort Studies,
Computational Biology, Epilepsies, Partial, Exome,
Female, Genetic Linkage, Genetic Predisposition to
Disease, Genome, Human, Genotype, Guanine Nucleotide
Exchange Factors, Humans, Male, Middle Aged, Molecular
Sequence Data, Mutation, Pedigree, Sequence Homology,
Amino Acid, Young Adult},
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.},
doi = {10.1038/ng.2601},
issn = {1546-1718},
language = {eng},
month = may,
pmid = {23542701},
year = 2013
}