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

doi:10.1002/ana.10492

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 Publication › Article › peer-review

51 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 language	English
Pages (from-to)	396-399
Number of pages	4
Journal	Annals of Neurology
Volume	53
Issue number	3
DOIs	https://doi.org/10.1002/ana.10492
Publication status	Published - 1 Mar 2003
Externally published	Yes

ASJC Scopus subject areas

Neurology
Clinical Neurology

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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.",

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AU - Pizzuti, Antonio

AU - Flex, Elisabetta

AU - Di Bonaventura, Carlo

AU - Dottorini, Tania

AU - Egeo, Gabriella

AU - Manfredi, Mario

AU - Dallapiccola, Bruno

AU - Giallonardo, Anna Teresa

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AB - 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.

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JO - Annals of Neurology

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ER -

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

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