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GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. (Articolo in rivista)

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GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. (Articolo in rivista) (literal)

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Gambardella A,1; Manna I,2; Labate A,2; Chifari R,3; La Russa A,2; Serra P,2; Cittadella R,2; Bonavita S,4; Andreoli V,2; LePiane E,5; Sasanelli F,3; Di Costanzo A,4; Zappia M,1; Tedeschi G,4; Aguglia U,5; Quattrone A.1-2 (2003)
GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.
in Neurology
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Gambardella A,1; Manna I,2; Labate A,2; Chifari R,3; La Russa A,2; Serra P,2; Cittadella R,2; Bonavita S,4; Andreoli V,2; LePiane E,5; Sasanelli F,3; Di Costanzo A,4; Zappia M,1; Tedeschi G,4; Aguglia U,5; Quattrone A.1-2 (literal)

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In this paper, the results of our study indicate that subjects who carried the A allele in GABA(B) have a significantly higher risk of developing TLE in comparison with those not carrying such an allele. Moreover, the GABA(B) G1465A polymorphism seems to influence the TLE phenotype, as patients carrying such a polymorphism had a much higher risk of developing the severe form of nonlesional TLE with poor control of their seizures. (literal)

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1,Institute of Neurology, University Magna Graecia of Catanzaro,Italy 2,Institute of Neurological Sciences, National Research Council Cosenza, Italy 3, Clinic of Neurology, Hospital of Melegnano, Milan, Italy; 4, Institute of Neurological Sciences, Second University of Naples, Italy 5,Regional Epilepsy Centre ,Hospital of Reggio Calabria, Italy. (literal)

Titolo

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

Abstract

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. (literal)

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