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December 01, 1998; 51 (6) Brief Communications

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

M. H. Wilson, R. S. Puranam, Ruth Ottman, C. Gilliam, L. E. Limbird, A. L. George, J. O. McNamara
First published December 1, 1998, DOI: https://doi.org/10.1212/WNL.51.6.1730
M. H. Wilson
BS
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R. S. Puranam
PhD
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Ruth Ottman
PhD
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C. Gilliam
PhD
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L. E. Limbird
PhD
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A. L. George Jr
MD
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J. O. McNamara
MD, PhD
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Citation
Evaluation of the α2A-adrenergic receptor gene in a heritable form of temporal lobe epilepsy
M. H. Wilson, R. S. Puranam, Ruth Ottman, C. Gilliam, L. E. Limbird, A. L. George, J. O. McNamara
Neurology Dec 1998, 51 (6) 1730-1731; DOI: 10.1212/WNL.51.6.1730

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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.

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