Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2003 Mar;53(3):396-9.
doi: 10.1002/ana.10492.

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

Antonio Pizzuti  1 , Elisabetta Flex, Carlo Di Bonaventura, Tania Dottorini, Gabriella Egeo, Mario Manfredi, Bruno Dallapiccola, Anna Teresa Giallonardo
Affiliations

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

Antonio Pizzuti et al. Ann Neurol. 2003 Mar.

Erratum in

  • Ann Neurol. 2003 Jul;54(1):137

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

Substances

LinkOut - more resources