Related Experiment Video

Updated: May 30, 2026

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy
09:57

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Published on: September 20, 2024

Epileptic seizures in infants and children with mitochondrial diseases

Hsiu-Fen Lee1, Ching-Shiang Chi, Chi-Ren Tsai

  • 1Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.

Pediatric Neurology
|August 10, 2011
PubMed

Insights

Infantile seizures are common in mitochondrial diseases, particularly Leigh syndrome and nonsyndromic forms. Nonsyndromic mitochondrial diseases often present with seizures, diffuse brain atrophy, and treatment-resistant epilepsy.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Mitochondrial diseases are a group of genetic disorders affecting cellular energy production.
  • Epileptic seizures are a common and often debilitating symptom in children with mitochondrial diseases.

Purpose of the Study:

  • To characterize epileptic seizures in infants and children diagnosed with mitochondrial diseases.
  • To analyze seizure onset, phenotypes, EEG, MRI findings, and treatment outcomes.
  • To compare characteristics between syndromic (e.g., Leigh syndrome) and nonsyndromic mitochondrial diseases.

Main Methods:

  • Retrospective review of medical data from 46 patients with mitochondrial diseases and epileptic seizures (1984-2010).
  • Analysis of age at seizure onset, seizure types, electroencephalogram (EEG) findings, and brain magnetic resonance imaging (MRI) features.
  • Evaluation of treatment outcomes, including seizure reduction rates.

Main Results:

  • Seizures manifested before age 1 in 65% of patients; 43% had Leigh syndrome, 53% had nonsyndromic mitochondrial diseases.
  • Epileptic seizures were the primary presenting complaint in 61% of patients, more common in nonsyndromic forms (68%).
  • Background slow activity on EEG (61%) and diffuse brain atrophy on MRI (58%) were common; atrophy was more frequent in nonsyndromic cases (62%).
  • Less than 50% seizure reduction was observed in 49% of patients, with 77% of these having nonsyndromic mitochondrial diseases.

Conclusions:

  • Both Leigh syndrome and nonsyndromic mitochondrial diseases frequently present with infantile seizures.
  • Nonsyndromic mitochondrial diseases are associated with a higher incidence of seizures as the initial symptom, diffuse brain atrophy, and refractory epilepsy.
  • These findings highlight the significant neurological impact of mitochondrial dysfunction in pediatric epilepsy.

More Related Videos

Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy10:22

Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy

Published on: December 6, 2016

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes08:56

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

Published on: October 10, 2025

Related Concept Videos

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:
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 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...
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...