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Updated: Jul 7, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence
Marcelo Andrés Kauffman1, Estrella Mariel Levy, Damian Consalvo
1Centro de Epilepsia, Hospital Ramos Mejia, Buenos Aires, Argentina. marcelokauffman@gmail.com
Abstract:
The G1465A polymorphism in the gene of the GABA type B receptor subunit 1 (GABABR1) has been linked to the risk for temporal lobe epilepsy (TLE). However, six replication studies did not show significant association between the G1465A GABABR1 gene variant and TLE. The authors examined this association in a sample of 102 patients with mesial TLE with hippocampal sclerosis (MTLE-HS) and 71 controls. The genotype distribution varied significantly between patients and controls. Heterozygous carriers of the A-allele had a 10-fold increase in risk for MTLE-HS (OR 10.01; 95% CI 3.98-25.18, p=3.788E-08).
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