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Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism
Antonio Pizzuti1, Elisabetta Flex, Carlo Di Bonaventura
1Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy. a.pizzuti@css-mendel.it
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.