Epilepsy with auditory features: A LGI1 gene mutation suggests a loss‐of‐function mechanism
- 24 February 2003
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 53 (3) , 396-399
- https://doi.org/10.1002/ana.10492
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;53:396–399Keywords
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