Epilessia parziale con sintomi uditivi: Studio di una famiglia non legata al cromosoma 10q

To date, four families have been reported with Autosomal dominant partial epilepsy with auditory features (ADPEAF). We describe the clinical and genetic features of a pedigree showing low penetrance of partial epilepsy with prominent auditory symptoms. We found four living affected members belonging to the same generation, of whom two presented generalised seizures preceded by auditory auras, one experienced a few episodes of auditory auras followed by loss of contact, and the fourth, with a history of tonic-clonic seizures during sleep, presented on afternoon nap recording two subclinical electric seizures mainly involving the right temporal lobe. Haplotype analysis with chromosome 10q24 markers showed that this locus did not segregate with the disease in this family.