Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy

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