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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...

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Updated: May 25, 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.

Shamima Rahman1

  • 1Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK. s.rahman@ich.ucl.ac.uk

Developmental Medicine and Child Neurology
|January 31, 2012
PubMed
Summary
This summary is machine-generated.

Mitochondrial epilepsy, a common inborn error, often presents with seizures and is difficult to manage. Genetic defects in mitochondrial DNA or nuclear genes cause this condition, with no current cure.

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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial respiratory chain disorders are common inborn errors of energy metabolism affecting high-energy tissues.
  • Cerebral involvement, particularly seizures, frequently occurs in childhood mitochondrial diseases.
  • These diseases are genetically heterogeneous, with mutations in mitochondrial and nuclear genes.

Purpose of the Study:

  • To review the genetic causes of mitochondrial epilepsy.
  • To discuss the clinical presentation and management challenges of mitochondrial epilepsy.
  • To highlight the current lack of curative treatments.

Main Methods:

  • Review of genetic causes of mitochondrial epilepsy, including mitochondrial DNA mutations (MELAS, MERRF) and nuclear gene mutations (POLG, RARS2).
  • Discussion of associated syndromes like Alpers, MIRAS, SCAE, and MEMSA.
  • Examination of clinical presentation, management strategies, and prognostic factors.

Main Results:

  • Mitochondrial epilepsy is linked to various genetic defects, including MELAS, MERRF, POLG mutations, and disorders of coenzyme Q10 biosynthesis or mitochondrial translation.
  • Epilepsy can be the primary or a multisystem feature of mitochondrial disease.
  • Mitochondrial epilepsy is challenging to manage and carries a poor prognosis.

Conclusions:

  • Mitochondrial epilepsy arises from diverse genetic defects and presents significant management difficulties.
  • Current treatments focus on symptom control with anticonvulsants, with unproven roles for supplements and ketogenic diets.
  • There are no curative therapies for mitochondrial disease, emphasizing the need for further research.