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 2a(2A)AR coding region as causal for this form of autosomal dominant TLE.
ASJC Scopus subject areas
- Clinical Neurology