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

作者：Striano Pasquale; Serioli Elena; Santulli Lia; Manna Ida; Labate Angelo; Dazzo Emanuela; Pasini Elena; Gambardella Antonio; Michelucci Roberto; Striano Salvatore; Nobile Carlo^*

来源：Epilepsia, 2015, 56(10): E168-E171.

DOI：10.1111/epi.13094

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

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 (deja 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.

• 出版日期2015-10