A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy
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 novelLGI1mutation 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 …
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 novelLGI1mutation 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 …