Epilepsy with auditory features: A LGI1 gene mutation suggests a loss-of-function mechanism

✍ Scribed by Antonio Pizzuti; Elisabetta Flex; Carlo Di Bonaventura; Tania Dottorini; Gabriella Egeo; Mario Manfredi; Bruno Dallapiccola; Anna Teresa Giallonardo

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 100 KB
• Volume: 53
• Category: Article
• ISSN: 0364-5134
• DOI: 10.1002/ana.10492

✦ Synopsis

Abstract

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine‐rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss‐of‐function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out. Ann Neurol 2003;53:396–399