Autosomal dominant partial epilepsy with auditory features

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare familial partial epilepsy syndrome with onset in the second or third decades of life characterized by recurrent auditory auras and/or other symptoms suggesting a lateral temporal onset. Mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) on chromosome 10q have been identified in approximately 50% of families with ADPEAF. In the literature a total of 25 LGI1 mutations have been described. The mechanisms by which LGI1 mutations cause epilepsy remain unclear. Among the various diagnostic techniques it is important to obtain an electroencephalogram and long-latency auditory evoked potentials. The prognosis is good and the treatment is based on carbamazepine, phenytoin and valproate.