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Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

309
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:
309
Arteries of the Lower Limbs01:24

Arteries of the Lower Limbs

181
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...
181
Antiepileptic Drugs: Sodium Channel Blockers01:08

Antiepileptic Drugs: Sodium Channel Blockers

462
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...
462
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

301
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...
301
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

150
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...
150
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

351
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...
351

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Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
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Epilepsies.

Amy McTague1, Ingrid E Scheffer2, Dimitri M Kullmann3

  • 1Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology, Great Ormond Street Hospital for Children, London, United Kingdom.

Handbook of Clinical Neurology
|August 22, 2024
PubMed
Summary
This summary is machine-generated.

Genetic diagnosis reveals epilepsy causes in ion channel genes. Early genetic testing for channelopathies is crucial for diagnosis, management, and developing targeted gene therapies.

Keywords:
ChannelopathyDevelopmental and epileptic encephalopathyDravet syndromeEpilepsyEpileptic encephalopathyMovement disorder

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Area of Science:

  • Neurogenetics
  • Epileptology
  • Molecular Medicine

Background:

  • Genetic diagnostics have identified causative variants in ion and ligand-gated channel genes for many epilepsies.
  • Channelopathies represent a significant group of genetic epilepsy disorders with diverse clinical presentations.

Purpose of the Study:

  • To describe clinical presentations of epilepsy associated with channelopathies.
  • To highlight the importance of recognizing channelopathy phenotypes for early genetic testing and management.
  • To discuss the implications for gene therapy development.

Main Methods:

  • Review of clinical presentations of epilepsy linked to channelopathies.
  • Discussion of specific channelopathies, including SCN1A-Dravet syndrome.
  • Exploration of clinical scenarios suggestive of channelopathy.

Main Results:

  • Identification of pathogenic variants in channel genes explains numerous epilepsies.
  • Channelopathies manifest in classic syndromes and emerging gene-specific phenotypes.
  • Phenotypic spectrums of channelopathies are expanding, impacting diagnosis and therapy.

Conclusions:

  • Early recognition of epilepsy phenotypes associated with channelopathies is essential for timely genetic testing.
  • Understanding channelopathies aids in developing targeted gene therapies.
  • Findings have implications for patient management, prognosis, and genetic counseling.