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Neurology 2003;60:560-563
© 2003 American Academy of Neurology

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy

A. Gambardella, MD, I. Manna, PhD, A. Labate, MD, R. Chifari, MD, A. La Russa, PhD, P. Serra, MSc, R. Cittadella, PhD, S. Bonavita, MD, V. Andreoli, PhD, E. LePiane, MD, F. Sasanelli, MD, A. Di Costanzo, MD, M. Zappia, MD, G. Tedeschi, MD, U. Aguglia, MD and A. Quattrone, MD

From the Institute of Neurology (Drs. Gambardella, Zappia, and Quattrone), School of Medicine, Catanzaro; Institute of Neurological Sciences (Drs. Gambardella, Manna, Labate, La Russa, Cittadella, Andreoli, Zappia, and Quattrone, and P. Serra), National Research Council, Cosenza; Clinic of Neurology (Drs. Chifari and Sasanelli), Hospital of Melegnano, Milan; Institute of Neurological Sciences (Drs. Bonavita, Di Costanzo, and Tedeschi), Second University of Naples; and Regional Epilepsy Centre (Drs. LePiane and Aguglia), Hospital of Reggio Calabria, Italy.

Address correspondence and reprint requests to Dr. Aldo Quattrone, Cattedra ed U.O. di Neurologia, Facoltà di Medicina e Chirurgia, Via Tommaso Campanella, 88100 Catanzaro, Italy; e-mail: neurologia{at}neurol-unicz.it

Background: Dysfunction of {gamma}-aminobutyric acid (GABA) (B) receptors has been implicated in the pathogenesis of temporal lobe epilepsy (TLE).

Objective: To evaluate the genetic contribution of cloned human GABA(B) receptors to TLE.

Methods: The authors genotyped 141 patients (78 women and 63 men; mean age = 49.1 ± 18.0 years) with nonlesional TLE and 372 age- and sex-matched normal individuals for the known polymorphism G1465A in the human GABA(B) receptor 1 [GABA(B[1])] gene.

Results: There was a highly significant overrepresentation of the G1465A heterozygote in patients with TLE compared with controls. The A/G genotype was found in 17% of the 141 patients with TLE and in only 0.5% of the 372 controls (p < 0.0001). The authors also found that patients carrying the A allele had a significantly higher risk (p = 0.003, OR = 6.47, 95% CI = 2.02 to 20.76) of developing drug-resistant TLE. Furthermore, the age at onset of seizures tended to be lower in patients with A/G genotype, but the difference was not significant.

Conclusions: The results of this study indicate that the GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to TLE. Moreover, it seems to influence the severity of this common epileptic disorder.




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