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

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Abstract
An autosomal dominant form of human temporal lobe epilepsy (TLE) has been mapped to a region of chromosome 10q that contains the intronless α2A-adrenergic receptor (α2AAR) gene. Because mutation of the α2AAR gene in the mouse fosters epileptogenesis, we developed methods for analysis of the α2AAR coding region applicable to any pathophysiologic state in which the α2AAR could be implicated in the disease mechanism. This study rules out mutations in the α2AAR coding region as causal for this form of autosomal dominant TLE.