Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy

Methods: A personal and family history was obtained from each affected and unaffected subject along with a physical and neurologic examination. Routine electroen-cephalography and magnetic resonance imaging (MRI) studies were performed in almost all patients. DNAs from family members were screened for LGI1 mutations. The effects of mutations on Lgi1 protein secretion were determined in transfected culture cells.

Purpose: To describe the clinical and genetic findings of four families with autosomal dominant lateral temporal epilepsy.