Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for their...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A translational multimodal machine-learning prototype predicting valproate response in epilepsy treatment.

Epilepsia·2026
Same author

Pharmacological treatments for Friedreich ataxia.

The Cochrane database of systematic reviews·2026
Same author

Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis.

bioRxiv : the preprint server for biology·2026
Same author

Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.

Movement disorders : official journal of the Movement Disorder Society·2025
Same author

A translational multimodal machine-learning prototype predicting valproate response in epilepsy treatment.

medRxiv : the preprint server for health sciences·2025
Same author

Automated Deep Learning-based Segmentation of the Dentate Nucleus Using Quantitative Susceptibility Mapping MRI.

Radiology. Artificial intelligence·2025

Related Experiment Video

Updated: May 25, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Genetics of epilepsy.

Massimo Pandolfo1

  • 1Department of Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium. Massimo.pandolfo@ulb.ac.be

Seminars in Neurology
|January 24, 2012
PubMed
Summary

Genetic factors significantly influence epilepsy, impacting its causes, susceptibility, and response to antiepileptic drugs. Research is advancing in identifying these genetic underpinnings for better treatment.

Area of Science:

  • Neurology
  • Genetics
  • Pharmacogenomics

Background:

  • Epilepsy is a prevalent and diverse neurological disorder with a strong genetic component.
  • Genetic factors contribute to epilepsy etiology, susceptibility, and drug response.
  • Understanding genetic influences is crucial for personalized epilepsy management.

Purpose of the Study:

  • To explore the multifaceted role of genetic factors in epilepsy.
  • To highlight recent advances in identifying genetic determinants of epilepsy and drug response.
  • To underscore the heterogeneity of epilepsy and its genetic underpinnings.

Main Methods:

  • Review of current literature on epilepsy genetics.
  • Analysis of genetic variants associated with idiopathic and complex epilepsies.

More Related Videos

Generation and On-Demand Initiation of Acute Ictal Activity in Rodent and Human Tissue
06:45

Generation and On-Demand Initiation of Acute Ictal Activity in Rodent and Human Tissue

Published on: January 19, 2019

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
06:58

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

Published on: July 12, 2021

Related Experiment Videos

Last Updated: May 25, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Generation and On-Demand Initiation of Acute Ictal Activity in Rodent and Human Tissue
06:45

Generation and On-Demand Initiation of Acute Ictal Activity in Rodent and Human Tissue

Published on: January 19, 2019

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
06:58

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

Published on: July 12, 2021

  • Examination of pharmacogenomic studies on antiepileptic drug efficacy and toxicity.
  • Main Results:

    • Genetic factors are implicated in both primary genetic epilepsies and susceptibility to acquired epilepsy.
    • Monogenic mutations and complex genetic variants contribute to epilepsy development.
    • Genetic variations influence the efficacy and tolerability of antiepileptic drugs, particularly medication toxicity.

    Conclusions:

    • Genetic factors are central to epilepsy's heterogeneous nature, affecting disease onset, progression, and treatment outcomes.
    • Advances in genetic research offer potential for more precise diagnosis and targeted therapies.
    • Further research is needed to fully elucidate the complex genetic architecture of epilepsy and its pharmacogenomic implications.