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Epilepsia. 2015 Oct;56(10):e168-71. doi: 10.1111/epi.13094. Epub 2015 Jul 27.

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.

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Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova, Italy.
CNR-Neuroscience Institute, Section of Padua, Padova, Italy.
Department of Neurosciences, Reproductive and Odontostomatological Sciences, School of Medicine, Federico II University, Napoli, Italy.
Institute of Molecular Bioimaging and Physiology, Section of Germaneto, National Research Council, Catanzaro, Italy.
Institute of Neurology, University Magna Graecia, Catanzaro, Italy.
IRCCS-Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy.
Department of Biomedical Sciences, University of Padua, Padova, Italy.


Mutations in the DEPDC5 (DEP domain-containing protein 5) gene are a major cause of familial focal epilepsy with variable foci (FFEVF) and are predicted to account for 12-37% of families with inherited focal epilepsies. To assess the clinical impact of DEPDC5 mutations in familial temporal lobe epilepsy, we screened a collection of Italian families with either autosomal dominant lateral temporal epilepsy (ADLTE) or familial mesial temporal lobe epilepsy (FMTLE). The probands of 28 families classified as ADLTE and 17 families as FMTLE were screened for DEPDC5 mutations by whole exome or targeted massive parallel sequencing. Putative mutations were validated by Sanger sequencing. We identified a DEPDC5 nonsense mutation (c.918C>G; p.Tyr306*) in a family with two affected members, clinically classified as FMTLE. The proband had temporal lobe seizures with prominent psychic symptoms (déjà vu, derealization, and forced thoughts); her mother had temporal lobe seizures, mainly featuring visceral epigastric auras and anxiety. In total, we found a single DEPDC5 mutation in one of (2.2%) 45 families with genetic temporal lobe epilepsy, a proportion much lower than that reported in other inherited focal epilepsies.


Familial focal epilepsy with variable foci; Genetics; Mutation; Temporal lobe seizures

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