Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Epilepsy ll: Types

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.

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

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...

Epilepsy and Seizures: Overview

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...

Seizures: Classification

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:

Principles of Pharmacogenetics: Types of Genetic Variants

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...

Antiepileptic Drugs: GABAergic Pathway Potentiators

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

Beyond Ketosis: Dietary Therapies and the Microbiota-Gut-Brain Axis in Epilepsy.

Nutrients·2026

Same author

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.

Journal of neurodevelopmental disorders·2026

Same author

Comparison of the efficacy of two different desmopressin formulations in pediatric patients with nocturnal enuresis: a retrospective observational study.

Central European journal of urology·2026

Same author

Effects of White Noise on Academic Skills in Children with ADHD and Specific Learning Disorders: New Perspectives for Personalised Rehabilitation and Educational Intervention.

Pediatric reports·2026

Same author

Childhood absence epilepsy and developmental coordination disorder: an intriguing comorbidity.

Seizure·2026

Same author

Soticlestat for drug-resistant epilepsy: Current evidence and clinical perspectives.

Seizure·2026

Search research articles

Related Experiment Video

Updated: Jul 12, 2026

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

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

Published on: June 6, 2025

Genetic polymorphisms and idiopathic generalized epilepsies.

Nazzareno Lucarini¹, Alberto Verrotti, Valerio Napolioni

¹Department of Molecular, Cellular, and Animal Biology, University of Camerino, Camerino, Italy. nazzareno.lucarini@unicam.it

Pediatric Neurology

|September 4, 2007

Summary

Genetic polymorphisms are key to understanding idiopathic generalized epilepsies (IGEs). This review highlights ion channel and metabolic pathway genes, offering insights into seizure pathogenesis.

More Related Videos

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Published on: May 16, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Experiment Videos

Last Updated: Jul 12, 2026

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

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

Published on: June 6, 2025

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Published on: May 16, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

Neurogenetics
Molecular Biology
Epilepsy Research

Background:

Idiopathic generalized epilepsies (IGEs) present complex genetic challenges due to inheritance patterns and heterogeneity.
Genetic polymorphisms provide a valuable tool for dissecting the genetic underpinnings of IGEs.
Understanding these genetic factors is crucial for clarifying pathogenetic mechanisms.

Purpose of the Study:

To review significant genetic polymorphisms associated with idiopathic generalized epilepsies.
To discuss the functional implications of these polymorphisms in disease pathogenesis.
To enhance the understanding of the genetic basis of IGEs.

Main Methods:

Literature review of genetic polymorphisms in idiopathic generalized epilepsies.
Analysis of genes encoding central nervous system ion channels.
Examination of genes involved in crucial metabolic pathways.

Main Results:

Identified key genes encoding ion channels (e.g., KCNJ10, SCN1A) and metabolic enzymes (e.g., HP, EFHC1) implicated in IGEs.
Highlighted the role of specific genetic variants in the pathogenesis of seizures.
Provided a comprehensive overview of reported genetic polymorphisms in IGEs.

Conclusions:

Genetic polymorphisms in ion channel and metabolic genes are significantly associated with idiopathic generalized epilepsies.
Further investigation into these polymorphisms can elucidate seizure mechanisms.
This review consolidates current knowledge on genetic factors contributing to IGEs.