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Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

378
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:
378
Arteries of the Lower Limbs01:24

Arteries of the Lower Limbs

194
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...
194
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

426
γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
426
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

192
Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
192
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

318
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...
318
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

387
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...
387

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Complexity in Genetic Epilepsies: A Comprehensive Review.

Cassandra Rastin1,2, Laila C Schenkel1,2, Bekim Sadikovic1,2

  • 1Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.

International Journal of Molecular Sciences
|October 14, 2023
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Summary

Epilepsy is a common neurological disorder with diverse causes and presentations. This review focuses on genetic epilepsies, exploring genetic testing and biomarkers for improved diagnosis and understanding.

Keywords:
DNA methylationNGSepigenomicsepilepsyreview

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Area of Science:

  • Neurology
  • Genetics
  • Biomarkers

Background:

  • Epilepsy affects 5-8 per 1000 individuals, with a 3% lifetime risk.
  • Epilepsy is a heterogeneous disorder with varied severity, onset, seizure types, and comorbidities.
  • Etiologies include genetic, infectious, metabolic, immune, acquired/structural, and idiopathic causes.

Purpose of the Study:

  • To review genetic causes of epilepsy.
  • To discuss advancements in genetic testing for epilepsy.
  • To explore the role of biomarkers in epilepsy diagnosis and management.

Main Methods:

  • Literature review of genetic epilepsies.
  • Analysis of current genetic testing methodologies.
  • Examination of biomarker research in epilepsy.

Main Results:

  • Genetic factors play a significant role in a substantial portion of epilepsy cases.
  • Genetic testing offers valuable insights into epilepsy etiology and personalized treatment.
  • Biomarkers show promise for early detection and monitoring of epilepsy.

Conclusions:

  • Understanding genetic epilepsies is crucial for accurate diagnosis and effective treatment.
  • Continued research in genetic testing and biomarkers will advance epilepsy care.
  • Personalized medicine approaches are essential for managing diverse epilepsy phenotypes.