Related Experiment Video

Updated: May 24, 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

Epilepsy in children--when should we think neurometabolic disease?

Radhika Dhamija1, Marc C Patterson, Elaine C Wirrell

  • 1Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN 55905, USA.

Journal of Child Neurology
|March 2, 2012
PubMed

Insights

Inborn errors of metabolism frequently cause seizures in children. Early diagnosis and treatment of these metabolic disorders are crucial for favorable outcomes.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pediatrics

Background:

  • Seizures are a common sign of central nervous system dysfunction.
  • Inborn errors of metabolism (IEM) are a significant cause of seizures, particularly in pediatric populations.
  • Early identification of IEM-related seizures is critical for timely intervention.

Purpose of the Study:

  • To review the classification of metabolic disorders causing seizures based on pathogenesis and age.
  • To propose a diagnostic strategy for IEM presenting with seizures.
  • To emphasize the importance of early diagnosis for improved patient outcomes.

Main Methods:

  • Literature review on IEM and seizures.
  • Classification of IEM based on underlying mechanisms and age of onset.
  • Development of a tiered diagnostic approach.

Main Results:

  • IEM represent a diverse group of disorders that manifest with seizures.
  • A systematic, tiered diagnostic approach can be cost-effective.
  • Specific treatments exist for certain IEM, leading to better long-term prognoses.

Conclusions:

  • A high index of suspicion for IEM is necessary when evaluating seizures in children.
  • Early diagnosis of IEM-related seizures allows for prompt initiation of disease-modifying therapies.
  • This review provides a framework for the efficient diagnosis of metabolic causes of seizures.

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

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

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

Published on: June 6, 2025

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:
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 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,...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...