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,...
Seizures ll: Types01:19

Seizures ll: Types

Seizures are sudden bursts of abnormal electrical discharge in the brain that interfere with normal function. They are commonly divided into three groups: focal seizures, generalized seizures, and other types that do not fit neatly into either category.Focal SeizuresFocal seizures begin in a single brain region. When awareness is preserved, they are called focal aware seizures and may cause sensations such as tingling, unusual smells, or flashing lights. When awareness is impaired, they are...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

You might also read

Related Articles

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

Sort by
Same author

Variant-specific response of KCNT1 gain-of-function mutations to quinidine.

Epilepsy research·2026
Same author

Cross-species transcriptomic analysis of rodent model fidelity to human mesial temporal lobe epilepsy.

Nature communications·2026
Same author

Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis.

Kidney research and clinical practice·2026
Same author

Deep learning-based real-time seizure detection and multi-seizure classification on pediatric EEG.

Frontiers in neurology·2026
Same author

Web-based discharge education program for caregivers of children with epilepsy: A feasibility study.

Journal of pediatric nursing·2026
Same author

Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies.

International journal of molecular sciences·2026

Related Experiment Video

Updated: May 14, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Mitochondrial disease and epilepsy.

Hoon-Chul Kang1, Young-Mock Lee, Heung Dong Kim

  • 1Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinic, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea. hipo0207@yuhs.ac

Brain & Development
|February 19, 2013
PubMed
Summary
This summary is machine-generated.

Mitochondrial diseases stem from faulty energy-producing mitochondria, often causing encephalomyopathy and seizures. Current treatments lack curative options, highlighting the need for better understanding and therapies.

Keywords:
EpilepsyMitochondriaRespiratory chain complexes

More Related Videos

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
08:48

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Published on: June 30, 2023

Related Experiment Videos

Last Updated: May 14, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
08:48

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Published on: June 30, 2023

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial diseases result from dysfunctional mitochondria, crucial for cellular energy production.
  • These conditions arise from mutations in mitochondrial or nuclear DNA affecting respiratory chain complexes.
  • They impact multiple organs with unpredictable progression, commonly presenting as encephalomyopathy with frequent epileptic seizures.

Purpose of the Study:

  • To explore the complex relationship between mitochondrial dysfunction and epilepsy.
  • To review current understanding of mitochondrial disease pathophysiology.
  • To identify needs for improved diagnostic and therapeutic strategies.

Main Methods:

  • Literature review of mitochondrial diseases and associated epilepsy.
  • Analysis of the interplay between mitochondrial energy production and neuronal excitability.
  • Synthesis of current knowledge on genetic causes and clinical presentations.

Main Results:

  • Epileptic seizures are a common presenting sign of mitochondrial encephalomyopathy.
  • The exact causal relationship between mitochondrial dysfunction and epilepsy remains debated, suggesting a potential vicious cycle.
  • Epileptic phenotypes are diverse across different mitochondrial diseases.

Conclusions:

  • Effective curative treatments for mitochondrial diseases are currently unavailable.
  • The efficacy of existing interventions like anticonvulsants, supplements, and ketogenic diets requires further validation.
  • A deeper understanding of mitochondrial disease pathophysiology is essential for developing novel diagnostic and therapeutic approaches.