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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:
1.1K
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: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

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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...
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Antiepileptic Drugs: Calcium Channel Blockers01:17

Antiepileptic Drugs: Calcium Channel Blockers

947
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...
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Electroconvulsive Therapy01:30

Electroconvulsive Therapy

482
Electroconvulsive therapy (ECT), or shock therapy, remains a critical biomedical intervention for severe, treatment-resistant depression. While its origins can be traced back to Hippocrates' observations that malaria-induced convulsions alleviated mental illness, modern ECT has evolved significantly from its earlier, more primitive applications. First introduced in 1938 by Ugo Cerletti and his colleagues, ECT involves inducing controlled seizures using electrical currents. In its early...
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Related Experiment Video

Updated: Dec 7, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
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Coffin-Siris syndrome and epilepsy.

Maria Rosaria Curcio1, Silvia Ferranti2, Federica Lotti3

  • 1Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|October 2, 2020
PubMed
Summary

Coffin-Siris syndrome patients can experience epilepsy, often with focal onset seizures. Early diagnosis and anticonvulsive therapy show promising results in managing epilepsy in this rare genetic disorder.

Keywords:
ARID1BCoffin-SirisEpilepsySMARCB1Seizures

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by distinctive facial features, developmental delays, and intellectual disability.
  • Epilepsy is an infrequent but significant comorbidity in CSS, with its specific clinical and electroencephalographic features remaining poorly understood.

Purpose of the Study:

  • To describe the clinical and instrumental findings of epilepsy in three patients with Coffin-Siris syndrome.
  • To contribute to a better understanding of the prevalence and characteristics of epilepsy in CSS.

Main Methods:

  • Clinical diagnosis of Coffin-Siris syndrome was confirmed through molecular analysis.
  • Detailed assessment of seizure semiology, electroencephalography (EEG), and response to anticonvulsive therapy was performed for all three patients.

Main Results:

  • All three patients presented with epilepsy, with a mean age of seizure onset at 5.5 years.
  • Seizures were typically brief, focal in onset with secondary generalization, and associated with unilateral or bilateral paroxysmal EEG activity.
  • Anticonvulsive therapy demonstrated satisfactory clinical efficacy with a low recurrence rate.

Conclusions:

  • This case series expands the phenotypic description of Coffin-Siris syndrome, specifically regarding epilepsy.
  • Further research is warranted to elucidate the full spectrum and prevalence of epilepsy in CSS.