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dc.contributor.authorDibbens, L.en
dc.contributor.authorde Vries, B.en
dc.contributor.authorDonatello, S.en
dc.contributor.authorHeron, S.en
dc.contributor.authorHodgson, B.en
dc.contributor.authorChintawar, S.en
dc.contributor.authorCrompton, D.en
dc.contributor.authorHughes, J.en
dc.contributor.authorBellows, S.en
dc.contributor.authorKlein, K.en
dc.contributor.authorCallenbach, P.en
dc.contributor.authorCorbett, M.en
dc.contributor.authorGardner, A.en
dc.contributor.authorKivity, S.en
dc.contributor.authorIona, X.en
dc.contributor.authorRegan, B.en
dc.contributor.authorWeller, C.en
dc.contributor.authorCrimmins, D.en
dc.contributor.authorO'Brien, T.en
dc.contributor.authorGuerrero-Lopez, R.en
dc.contributor.authoret al.en
dc.identifier.citationNature Genetics, 2013; 45(5):546-551en
dc.description.abstractThe majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) is notable because family members have seizures originating from different cortical regions. Using exome sequencing, we detected DEPDC5 mutations in two affected families. We subsequently identified mutations in five of six additional published large families with FFEVF. Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82). This high frequency establishes DEPDC5 mutations as a common cause of familial focal epilepsies. Shared homology with G protein signaling molecules and localization in human neurons suggest a role of DEPDC5 in neuronal signal transduction.en
dc.subjectNeurons; Cells, Cultured; Pluripotent Stem Cells; Animals; Humans; Mice; Epilepsies, Partial; Genetic Predisposition to Disease; Guanine Nucleotide Exchange Factors; Repressor Proteins; Fluorescent Antibody Technique; Case-Control Studies; Cohort Studies; Pedigree; Computational Biology; Genotype; Mutation; Adolescent; Adult; Middle Aged; Child; Child, Preschool; Infant; Female; Male; Young Adult; Genetic Linkage; Exomeen
dc.titleMutations in DEPDC5 cause familial focal epilepsy with variable focien
dc.typeJournal articleen
pubs.library.collectionMolecular and Biomedical Science publicationsen
dc.identifier.orcidHeron, S. [0000-0001-8759-6748]en
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Molecular and Biomedical Science publications

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