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Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

255
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...
255
Seizures: Classification01:13

Seizures: Classification

552
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:
552
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

254
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...
254
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

550
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...
550
Antiepileptic Drugs: Sodium Channel Blockers01:08

Antiepileptic Drugs: Sodium Channel Blockers

813
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...
813
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

415
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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Updated: Aug 26, 2025

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

Marina Auconi1,2, Domenico Serino3, Maria Cristina Digilio4

  • 1Child Neurology Unit, Systems Medicine Department, Tor Vergata University Hospital of Rome, Rome, Italy.

Developmental Medicine and Child Neurology
|October 5, 2022
PubMed
Summary
This summary is machine-generated.

Epilepsy in KBG syndrome patients often responds well to treatment and can be self-limiting. Consider epilepsy in the diagnostic work-up for KBG syndrome, as phenotypes vary.

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Area of Science:

  • Neurology
  • Genetics
  • Epileptology

Background:

  • KBG syndrome is a rare genetic disorder.
  • Epilepsy is a known complication of KBG syndrome.
  • Understanding the epileptological characteristics is crucial for patient management.

Observation:

  • This study reviewed 11 patients with KBG syndrome and epilepsy.
  • Patients had pathogenic mutations in ANKRD11 or 16q24.3 microdeletion.
  • Epilepsy onset averaged 67 months, with focal and generalized types observed.

Findings:

  • Epilepsy in KBG syndrome patients responded well to treatment.
  • Some epilepsy types were self-limiting.
  • No specific epilepsy hotspot was identified based on molecular characteristics.

Implications:

  • Epilepsy should be considered in the diagnostic evaluation of KBG syndrome.
  • The variable epilepsy phenotypes in KBG syndrome require individualized treatment approaches.
  • Further research into the relationship between ANKRD11 mutations and epilepsy is warranted.