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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:
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
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,...
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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Related Experiment Video

Updated: May 23, 2026

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy
07:47

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Published on: July 9, 2016

Epilepsy in mitochondrial disorders.

Josef Finsterer1, Sinda Zarrouk Mahjoub

  • 1Danube University Krems, Krems, Austria. fifigs1@yahoo.de

Seizure
|March 31, 2012
PubMed
Summary

Epilepsy is common in mitochondrial disorders, affecting both syndromic and non-syndromic types. Treatment is similar to other epilepsies, but avoid mitochondrion-toxic drugs to prevent complications.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Epilepsy is a frequent manifestation in mitochondrial disorders, yet detailed information remains limited.
  • Mitochondrial disorders encompass a range of genetic conditions affecting cellular energy production, often presenting with diverse neurological symptoms, including seizures.

Purpose of the Study:

  • To comprehensively review and describe epilepsy in syndromic and non-syndromic mitochondrial disorders.
  • To highlight epilepsy as a key phenotypic feature in various mitochondrial conditions.

Main Methods:

  • A literature search was conducted using PubMed.
  • Keywords included "mitochondrial", "epilepsy", "seizures", and acronyms for syndromic mitochondrial disorders.

Main Results:

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  • Syndromic mitochondrial disorders with obligatory epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh syndrome, MELAS syndrome, MEMSA syndrome, and MERRF syndrome.
  • Epilepsy also occurs in IOSCA, KSS, LHON, LBSL, and NARP. Generalized tonic-clonic seizures, partial seizures, myoclonic jerks, and West syndrome are most common.
  • Epilepsy treatment in mitochondrial disorders generally follows standard protocols, with a crucial consideration for potential mitochondrion-toxicity of certain antiepileptic drugs like valproic acid and carbamazepine.

Conclusions:

  • Epilepsy is a prevalent phenotypic characteristic across syndromic and non-syndromic mitochondrial disorders.
  • Standard epilepsy treatments are applicable, but avoidance of mitochondrion-toxic medications is essential to prevent adverse effects and disease worsening.