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Article

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

Annals of neurology - 1 Mar 2003

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12601709
DOI: 10.1002/ana.10492

Genes

LGI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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