Identification of Autosomal Dominant Lateral Temporal Epilepsy Caused by A Novel Mutation in RELN in China
1. Abstract
1.1. Purpose: Temporal lobe epilepsy is the most common focal
epilepsy, whereas the genetic factors usually be ignored. Reelin
(RELN) gene has been considered as the second pathogenic gene
of Autosomal Dominant Lateral Temporal Epilepsy (ADLTE),
mutation in which is rarely discovered in Chinese. A family with
ADLTE caused by a novel missense mutation in RELN is explored
in this paper.