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Updated: Jun 2, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
[Physiopathology and genetics of epilepsy: recent data]
Jean-Marie Stutzmann1, Bernard Scatton
1Sanofi-Aventis R&D, 13 quai Jules Guesde, 94403 Vitry-sur-Seine, France. jm.stutzmann@wanadoo.fr
Abstract:
Novel strategies are needed to treat epilepsy, in order to ensure efficiency, security and prevention. The search for innovating anti-epileptics is based on finding appropriate target molecules, among which the most pertinent appear to be chlore and potassium channels. Transcriptomics and proteomics are also prone to detect genes or proteins implicated in the disease, in particular when biopsies from healthy and epileptic brains are compared. Animal genetic models provide information about epilepsies with a unique origin. Finally some targets are identified through fortuitous findings from research in other fields, notably that of pro-inflammatory cytokines.
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