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Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

339
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:
339
Arteries of the Lower Limbs01:24

Arteries of the Lower Limbs

188
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...
188
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

388
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...
388
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

325
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...
325
Antiepileptic Drugs: Calcium Channel Blockers01:17

Antiepileptic Drugs: Calcium Channel Blockers

382
Calcium channel blockers, a class of antiepileptic drugs, regulate the flow of calcium ions within neurons.
Calcium channel blockers exert their antiepileptic effects by targeting T-type calcium channels, which are integral to transmitting nerve signals in the central nervous system. These channels allow the passage of calcium ions, which are vital for neuronal communication. By inhibiting T-type calcium channels, calcium channel blockers effectively reduce the release of neurotransmitters and...
382
Antiepileptic Drugs: Sodium Channel Blockers01:08

Antiepileptic Drugs: Sodium Channel Blockers

522
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...
522

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Related Experiment Video

Updated: Jun 28, 2025

Generation and On-Demand Initiation of Acute Ictal Activity in Rodent and Human Tissue
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X-Linked Epilepsies: A Narrative Review.

Pia Bernardo1, Claudia Cuccurullo2, Marica Rubino3

  • 1Pediatric Psychiatry and Neurology Unit, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, 80129 Naples, Italy.

International Journal of Molecular Sciences
|April 13, 2024
PubMed
Summary

X-linked epilepsies are diverse genetic disorders often linked with intellectual disability. This review details known X-linked epilepsy genes and their phenotypes, aiding clinical diagnosis and treatment.

Keywords:
X-linkeddevelopmental and epileptic encephalopathies (DEEs)epilepsygenetics

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Area of Science:

  • Neurogenetics
  • Epileptology
  • Genomic Medicine

Background:

  • X-linked epilepsies are a complex group of genetic disorders frequently co-occurring with intellectual disability.
  • Numerous X-linked genes have been identified, causing epilepsy syndromes and developmental and epileptic encephalopathies (DEEs).
  • Phenotypic characterization varies, with some genes well-defined and others recently discovered.

Purpose of the Study:

  • To provide a comprehensive and updated narrative review of X-linked epilepsies.
  • To consolidate information on well-characterized and newly identified X-linked epilepsy genes.
  • To assist clinicians in the genetic diagnosis and management of patients with X-linked epilepsy.

Main Methods:

  • Comprehensive literature review of X-linked epilepsy syndromes.
  • Analysis of electro-clinical phenotypes associated with identified genes.
  • Discussion of inheritance patterns and complicating factors like X-chromosome inactivation.

Main Results:

  • Detailed description of established X-linked epileptic syndromes (e.g., PCDH19, CDKL5, MECP2 related DEEs).
  • Overview of epilepsies linked to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA).
  • Summary of DEEs associated with recently identified genes (e.g., SLC9A6, SYN1, PIGA).

Conclusions:

  • X-linked epilepsies present a heterogeneous spectrum of conditions.
  • Identifying an X-linked inheritance pattern can be challenging due to complex inheritance and modifying factors.
  • This review serves as a valuable resource for understanding and managing X-linked epilepsies.