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Updated: Apr 12, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
Clinical implications of neuropharmacogenetics
J-C Corvol1, D Devos2, J-S Hulot3
1Sorbonne universités, UPMC université Paris 06, 4, place Jussieu, 75005 Paris, France; CIC_1422, département des maladies du système nerveux, hôpital Pitié-Salpêtrière, AP-HP, 47, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Inserm, UMR_S1127, ICM, 47, boulevard de l'Hôpital, 75651 Paris cedex 13, France; CNRS, UMR_7225, ICM, 4, place Jussieu, 75005 Paris, France.
Introduction:
Pharmacogenetics aims to identify the underlying genetic factors participating in the variability of drug response. Indeed, genetic variability at the DNA or RNA levels can directly or indirectly modify the pharmacokinetic or the pharmacodynamic parameters of a drug. The ultimate aim of pharmacogenetics is to move towards a personalised medicine by predicting responders and non-responders, adjusting the dose of the treatment, and identifying individuals at risk of adverse drug effects.
Methods:
A literature research was performed in which we reviewed all pharmacogenetic studies in neurological disorders including neurodegenerative diseases, multiple sclerosis, stroke and epilepsy.
Results:
Several pharmacogenetic studies have been performed in neurology, bringing insights into the inter-individual drug response variability and in the pathophysiology of neurological diseases. The principal implications of these studies for the management of patients in clinical practice are discussed.
Conclusion/Discussion:
Although several genetic factors have been identified in the modification of drug response in neurological disorders, most of them have a marginal predictive effect at the single gene level, suggesting mutagenic interactions as well as other factors related to drug interaction and disease subtypes. Most pharmacogenetic studies deserve further replication in independent populations and, ideally, in pharmacogenetic clinical trials to demonstrate their relevance in clinical practice.
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