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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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Epistasis Analysis01:09

Epistasis Analysis

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

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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...
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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: 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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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Understanding Genotypes and Phenotypes in Epileptic Encephalopathies.

Ingo Helbig1, Abou Ahmad N Tayoun2

  • 1Division of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa., USA; Division of Department of Neuropediatrics, Christian Albrechts University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.

Molecular Syndromology
|October 27, 2016
PubMed
Summary

Genetic factors increasingly explain severe early-onset epilepsies, known as epileptic encephalopathies. Phenotypic variability is common, with similar presentations arising from different genetic causes.

Keywords:
Epileptic encephalopathyGenotypic heterogeneityNext-generation sequencingPhenotypic heterogeneityWhole-exome sequencing

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Area of Science:

  • Neuroscience
  • Genetics
  • Epilepsy Research

Background:

  • Epileptic encephalopathies are severe seizure disorders impacting brain function, often starting in childhood with developmental delays and comorbidities.
  • Recent advances recognize genetic factors in severe childhood epilepsies like West, Lennox-Gastaut, and Dravet syndromes.
  • Over 70 genes are now linked to epileptic encephalopathies, explaining 20-25% of unexplained severe early-onset cases.

Approach:

  • This review focuses on the phenotypic variability characteristic of genetic epilepsies.
  • It examines how identical genetic alterations can lead to broad phenotypic presentations.
  • The review also explores how different genetic etiologies can result in similar clinical pictures.

Key Points:

  • Phenotypic presentation in genetic epilepsies is highly variable, even with the same genetic mutation.
  • Similar clinical phenotypes, like Dravet syndrome, can be caused by mutations in various genes (e.g., SCN1A, PCDH19, CHD2, SCN8A).
  • Increasing recognition of both benign and severe phenotypes within genetic epilepsies questions their distinctness.

Conclusions:

  • Genetic discoveries are transforming the understanding of epileptic encephalopathies.
  • Phenotypic and genotypic heterogeneity are hallmarks of these conditions.
  • Further research is needed to clarify the relationship between different phenotypes and genetic underpinnings.