A novel loss-of-function LGi1 mutation linked to autosomal dominant lateral temporal epilepsy

Pasquale Striano, Arturo De Falco, Erica Diani, Giorgia Bovo, Sandra Furlan, Libero Vitiello, Federica Pinardi, Salvatore Striano, Roberto Michelucci, Fabrizio Antonio De Falco, Carlo Nobile

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene. Objectives: To describe the clinical and genetic findings in a family with autosomal dominant lateral temporal epilepsy and to determine the functional effects of a novel LGI1 mutation in culture cells. Design: Clinical, genetic, and functional investigations. Setting: University hospital and laboratory. Patients: An Italian family with autosomal dominant lateral temporal epilepsy. Main Outcome Measure: Mutation analysis. Results: A novel LGI1 mutation, c.365T>A (Ile122Lys), segregating with the disease was identified. The mutant Lgi1 protein was not secreted by culture cells. Conclusion: Our data provide further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function.

Original languageEnglish
Pages (from-to)939-942
Number of pages4
JournalArchives of Neurology
Volume65
Issue number7
DOIs
Publication statusPublished - Jul 2008

ASJC Scopus subject areas

  • Neuroscience(all)

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