A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy

Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene.

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.

Clinical, genetic, and functional investigations.

University hospital and laboratory.

An Italian family with autosomal dominant lateral temporal epilepsy.

Mutation analysis.

A novel LGI1 mutation, c.365T>A (Ile122Lys), segregating with the disease was identified. The mutant Lgi1 protein was not secreted by culture cells.

Our data provide further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function.