DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. (27th July 2015)

• Record Type: Journal Article
• Authors: Striano, Pasquale; Serioli, Elena; Santulli, Lia; Manna, Ida; Labate, Angelo; Dazzo, Emanuela; Pasini, Elena; Gambardella, Antonio; Michelucci, Roberto; Striano, Salvatore; Nobile, Carlo
• Is Part Of: Epilepsia. Volume 56:issue 10(2015:Oct.)
• Page Start: e168
• Page End: e171
• Publication Date: 2015-07-27
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.13094
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" id="epi13094-abs-0001"> <title>Summary</title> <p>Mutations in the <italic>DEPDC5</italic> (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 <italic>DEPDC5</italic> 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 <italic>DEPDC5</italic> mutations by whole exome or targeted massive parallel sequencing. Putative mutations were validated by Sanger sequencing. We identified a <italic>DEPDC5</italic> nonsense mutation (c.918C&gt;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 <italic>DEPDC5</italic> 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.</p> </abstract>