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Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Ishida, Saeko
Rudolf, Gabrielle
Noé, Eric
Achaz, Guillaume
Thomas, Pierre
Genton, Pierre
Mundwiller, Emeline
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Published in Nature genetics. 2013, vol. 45, no. 5, p. 552-5
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.
Keywords AdolescentAdultAmino Acid SequenceBrain/metabolism/pathologyCase-Control StudiesChildCohort StudiesComputational BiologyEpilepsies, Partial/diagnosis/geneticsExome/geneticsFemaleGenetic LinkageGenetic Predisposition to Disease/geneticsGenome, HumanGenotypeGuanine Nucleotide Exchange Factors/geneticsHumansMaleMiddle AgedMolecular Sequence DataMutation/geneticsPedigreeSequence Homology, Amino AcidYoung Adult
PMID: 23542701
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Research group Epilepsie et Chirurgie (149)
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ISHIDA, Saeko et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. In: Nature genetics, 2013, vol. 45, n° 5, p. 552-5. doi: 10.1038/ng.2601 https://archive-ouverte.unige.ch/unige:37947

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Deposited on : 2014-06-18

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