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

Antonio Pizzuti, Elisabetta Flex, Carlo Di Bonaventura, Tania Dottorini, Gabriella Egeo, Mario Manfredi, Bruno Dallapiccola, Anna Teresa Giallonardo

Research output: Journal PublicationArticlepeer-review

50 Citations (Scopus)

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 Lgil 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.

Original languageEnglish
Pages (from-to)396-399
Number of pages4
JournalAnnals of Neurology
Volume53
Issue number3
DOIs
Publication statusPublished - 1 Mar 2003
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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