Novel LGI1 mutation in a Japanese autosomal dominant lateral temporal lobe epilepsy family

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is a rare familial focal epilepsy syndrome with auditory features1. The leucine-rich glioma inactivated 1 (LGI1) was identified as a causative gene. About 40 LGI1 mutations have been reported1-7. Disease mechanisms caused by LGI1 mutations haven't been fully clarified. Accumulation of case reports with detailed descriptions will contribute to elucidate the mechanisms. Here we describe a novel LGI1 mutation identified in the new Japanese family (Fig. 1A). This article is protected by copyright. All rights reserved.