Related Experiment Video

Updated: Aug 8, 2026

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice
09:29

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Published on: June 11, 2020

[Congenital errors of metabolism with epileptic seizures during the first years of life]

J Campistol1

  • 1Unitat Integrada Hospital Sant Joan de Déu-Clinic. Universitat de Barcelona, Barcelona, España. campistol@hsjdbcn.org

Revista De Neurologia
|October 10, 2002
PubMed

Insights

Congenital metabolic disorders can cause epilepsy in children aged 1-10 years. Early diagnosis is crucial, especially for drug-resistant epilepsy or unexplained neurological symptoms.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pediatrics

Context:

  • Epilepsy in children presents diverse etiological origins.
  • Congenital errors of metabolism are a less common but significant cause of seizures.
  • Identifying these metabolic causes requires specialized diagnostic approaches.

Purpose:

  • To review the primary metabolic causes of epilepsy in children aged 1 to 10 years.
  • To categorize these metabolic conditions based on their presentation with epilepsy.
  • To outline diagnostic considerations for metabolic epilepsy in this age group.

Summary:

  • This review focuses on congenital metabolic errors manifesting as convulsive seizures between 12 months and 10 years of age.
  • Conditions are subcategorized based on whether epilepsy is a primary or secondary neurological symptom.
  • The paper aims to aid in diagnosing metabolic etiologies of seizures in pediatric patients.

Impact:

  • Highlights the importance of considering metabolic disorders in pediatric epilepsy diagnosis.
  • Emphasizes the need for awareness among pediatricians and epileptologists.
  • Aids in identifying treatable causes of epilepsy, particularly in refractory cases or those with systemic features.
Abstract

More Related Videos

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy09:57

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

Published on: September 20, 2024

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...
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...
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...
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,...
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.