A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.

ABSTRACT:

Aims

This study aimed to explore the pathomechanism of a mutation on the leucine-rich glioma inactivated 1 gene (LGI1) identified in a family having autosomal dominant lateral temporal lobe epilepsy (ADLTE), using a precise knock-in mouse model.

Methods and results

A novel LGI1 mutation, c.152A>G; p. Asp51Gly, was identified by whole exome sequencing in a Chinese family with ADLTE. The pathomechanism of the mutation was explored by generating Lgi1^D51G knock-in mice that precisely phenocopied the epileptic symptoms of human patients. The Lgi1^D51G/D51G mice showed spontaneous recurrent generalized seizures and premature death. The Lgi1^D51G/+ mice had partial epilepsy, with half of them displaying epileptiform di

SUBMITTER: Hu P 

PROVIDER: S-EPMC8739050 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature