Article
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
Epilepsia - 1 Oct 2015
Striano Pasquale, Serioli Elena, Santulli Lia, Manna Ida, Labate Angelo, Dazzo Emanuela, Pasini Elena, Gambardella Antonio, Michelucci Roberto, Striano Salvatore, Nobile Carlo
Abstract excerpt
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)...
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