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

Pasquale Striano, Elena Serioli, Lia Santulli, Ida Manna, Angelo Labate, Emanuela Dazzo, Elena Pasini, Antonio Gambardella, Roberto Michelucci, Salvatore Striano, Carlo Nobile

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)e168-e171
JournalEpilepsia
Volume56
Issue number10
DOIs
Publication statusPublished - Oct 1 2015

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Fingerprint

Dive into the research topics of 'DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy'. Together they form a unique fingerprint.

Cite this