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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Updated: May 28, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Pharmacogenomics and epilepsy: the road ahead.

Gianpiero L Cavalleri1, Mark McCormack, Saud Alhusaini

  • 1Molecular & Cellular Therapeutics, the Royal College of Surgeons in Ireland, Dublin, Ireland. gcavalleri@rcsi.ie

Pharmacogenomics
|October 20, 2011
PubMed
Summary

Pharmacogenomics can personalize epilepsy treatment by identifying genetic factors influencing antiepileptic drug response. This review highlights the need for improved study designs to accelerate the discovery of clinically relevant genetic markers for better patient outcomes.

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Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice
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Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
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Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

Area of Science:

  • Neurology
  • Pharmacogenomics
  • Clinical Pharmacology

Background:

  • Epilepsy affects 50 million globally, a common and severe neurological disorder.
  • Current treatments involve 16 antiepileptic drugs, but lack personalized guidance for specific epilepsy syndromes and seizure types.
  • Antiepileptic drugs carry risks of severe adverse reactions, necessitating safer and more effective treatment strategies.

Purpose of the Study:

  • To review existing pharmacogenomic research in epilepsy.
  • To identify key aspects of study design crucial for advancing pharmacogenomic discoveries in epilepsy.
  • To address the need for personalized antiepileptic drug selection and dosing.

Main Methods:

  • Literature review of pharmacogenomic studies related to antiepileptic drugs.
  • Analysis of study design elements impacting the identification of genetic factors.
  • Discussion of challenges and future directions in epilepsy pharmacogenomics.

Main Results:

  • Current pharmacogenomic data in epilepsy is insufficient for widespread clinical application.
  • Specific study design improvements are needed to enhance the power of genetic association studies.
  • The potential for pharmacogenomics to guide individualized epilepsy treatment is significant but underexplored.

Conclusions:

  • Pharmacogenomics holds promise for optimizing antiepileptic drug therapy and minimizing adverse events.
  • Enhanced study designs are critical to accelerate the translation of genetic findings into clinical practice for epilepsy management.
  • Further research is essential to establish robust genotype-phenotype correlations for personalized epilepsy care.