Evaluation of the α2A-adrenergic receptor gene in a heritable form of temporal lobe epilepsy

An autosomal dominant form of human temporal lobe epilepsy (TLE) has been mapped to a region of chromosome 10q that contains the intronless α 2A -adrenergic receptor (α 2A AR) gene. Because mutation of the α 2A AR gene in the mouse fosters epileptogenesis, we developed methods for analysis of the α 2A AR coding region applicable to any pathophysiologic state in which the α 2A AR could be implicated in the disease mechanism. This study rules out mutations in the α 2A AR coding region as causal for this form of autosomal dominant TLE.