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Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

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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...
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Seizures: Classification01:13

Seizures: Classification

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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:
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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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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Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

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Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
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Antiepileptic Drugs: Sodium Channel Blockers01:08

Antiepileptic Drugs: Sodium Channel Blockers

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Antiepileptic drugs are specialized medications that prevent seizures in individuals diagnosed with epilepsy. These drugs primarily function by blocking the movement of sodium ions through channels in the neuronal membrane, inhibiting the repetitive firing of action potentials often associated with seizures.
Sodium channel blockers modulate ion channels, particularly voltage-gated sodium channels. They block only sodium ion movement.
Among the most commonly prescribed antiepileptic drugs are...
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Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

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Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
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Related Experiment Video

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A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
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Metabolic Epilepsy.

Chaithanya Reddy1, Arushi Gahlot Saini2

  • 1Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education & Research, 160012, Chandigarh, India.

Indian Journal of Pediatrics
|October 16, 2020
PubMed
Summary

Inborn errors of metabolism are an increasingly recognized cause of epilepsy in children. Advances in genetic testing simplify diagnosis, enabling early intervention and improved neurological outcomes for metabolic epilepsy.

Keywords:
EpilepsyInborn error of metabolismMetabolic epilepsyNeurometabolicSeizures

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Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Inborn errors of metabolism (IEMs) are increasingly identified as a cause of epilepsy, particularly in neonates and children.
  • Metabolic epilepsy encompasses inherited metabolic disorders with primary epileptic manifestations or epilepsy as part of a broader neurological phenotype.
  • Early diagnosis and treatment are crucial as many IEMs causing epilepsy are treatable.

Purpose of the Study:

  • To highlight the significance of IEMs as a cause of epilepsy.
  • To emphasize the role of diagnostic advancements in identifying metabolic epilepsy.
  • To underscore the importance of early suspicion and intervention for treatable IEMs.

Main Methods:

  • Review of diagnostic approaches for metabolic epilepsy.
  • Highlighting the impact of gene sequencing technology on diagnosis.
  • Mentioning the utility of gene panels and neonatal screening programs.

Main Results:

  • Improved diagnostic capabilities have increased the detection rate of metabolic epilepsy.
  • Gene sequencing and gene panels offer a less invasive diagnostic pathway compared to traditional methods.
  • Neonatal screening programs are identifying treatable IEMs earlier.

Conclusions:

  • Metabolic epilepsy requires early clinical and laboratory suspicion due to lack of specific features.
  • Advancements in genetic technology simplify diagnosis, often requiring only a blood sample.
  • Timely diagnosis and treatment of IEMs can prevent metabolic crises and improve neurological outcomes, though outcomes remain variable.