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

1.7K
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...
1.7K
Seizures: Classification01:13

Seizures: Classification

2.3K
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:
2.3K
Human Genetics01:28

Human Genetics

1.9K
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...
1.9K
Genetic Lingo01:11

Genetic Lingo

118.5K
Overview
118.5K
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

1.8K
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...
1.8K
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

1.2K
Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
1.2K

You might also read

Related Articles

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

Sort by
Same author

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Neuropediatrics·2025
Same author

Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2025
Same author

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies.

Revue neurologique·2024
Same author

Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.

European journal of medical genetics·2024
Same author

Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2023
Same author

Publication bias in pharmacogenetics of adverse reaction to antiseizure drugs: An umbrella review and a meta-epidemiological study.

PloS one·2022

Related Experiment Video

Updated: Apr 12, 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

1.8K

Epilepsy genetics: the ongoing revolution.

G Lesca1, C Depienne2

  • 1Service de génétique, groupement hospitalier Est, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron, France; Université Claude-Bernard Lyon 1, 43, boulevard du 11-Novembre-1918, 69100 Villeurbanne, France; CRNL, CNRS UMR 5292, Inserm U1028, bâtiment IMBL, 11, avenue Jean-Capelle, 69621 Villeurbanne cedex, France.

Revue Neurologique
|May 25, 2015
PubMed
Summary

Recent advances in genetic sequencing have identified numerous genes responsible for various epileptic disorders, particularly epileptic encephalopathies. This breakthrough aids in diagnosis, genetic counseling, and targeted therapies for epilepsy.

Keywords:
Copy-number variationEncéphalopathie épileptiqueEpilepsyEpileptic encephalopathyGeneGeneticsGèneGénétiqueVariations du nombre de copiesÉpilepsie

More Related Videos

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

5.9K
Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
08:26

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

6.4K

Related Experiment Videos

Last Updated: Apr 12, 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

1.8K
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

5.9K
Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
08:26

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

6.4K

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Epilepsies are challenging to diagnose genetically due to variable expressivity, phenocopies, and genetic heterogeneity.
  • Identifying causative genes for epilepsies has been historically difficult.

Purpose of the Study:

  • To highlight recent technological advancements in identifying genes associated with epileptic disorders.
  • To discuss the impact of these discoveries on understanding epilepsy pathophysiology and clinical applications.

Main Methods:

  • Array comparative genomic hybridization (aCGH)
  • Next-generation sequencing (NGS)
  • Genetic variant analysis

Main Results:

  • Identification of an increasing number of genes and genomic regions linked to diverse epileptic disorders.
  • Significant progress in discovering causative genes for epileptic encephalopathies since 2012.
  • Confirmation of genetic bases for syndromes like continuous spike-and-waves during slow-wave sleep and Landau-Kleffner syndrome through GRIN2A mutations.

Conclusions:

  • New technologies are revolutionizing epilepsy gene discovery and diagnostics.
  • Interpreting vast amounts of genetic data is a key challenge.
  • Causative mutation identification improves diagnosis, counseling, and therapeutic development for epilepsies.