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Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

911
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:
911
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...
823
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

603
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...
603

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Related Experiment Video

Updated: Nov 16, 2025

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SYNGAP1-DEE: A visual sensitive epilepsy.

Tommaso Lo Barco1, Anna Kaminska2, Roberta Solazzi3

  • 1Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; PhD Program in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Italy.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|February 27, 2021
PubMed
Summary
This summary is machine-generated.

Pathogenic SYNGAP1 variants are linked to specific EEG patterns triggered by eye closure, including fixation-off sensitivity and eye-closure sensitivity. These findings aid in understanding SYNGAP1-related epilepsy and guiding genetic diagnosis.

Keywords:
Eye-closure sensitivityFixation-off sensitivityMyoclonic seizuresPhotosensitivityReflex epilepsySYNGAP1

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Area of Science:

  • Neuroscience
  • Genetics
  • Epileptology

Background:

  • Pathogenic variants in the SYNGAP1 gene are associated with intellectual disability and epilepsy.
  • Understanding the specific electroclinical features can improve diagnosis and management.

Purpose of the Study:

  • To characterize the electroencephalogram (EEG) patterns in individuals with pathogenic SYNGAP1 variants.
  • To identify seizure triggers and EEG manifestations in this cohort.

Main Methods:

  • Recruited 15 patients with pathogenic SYNGAP1 variants from five European epilepsy centers.
  • Analyzed 72 EEG recordings and 254 seizures, focusing on interictal and ictal patterns.
  • Correlated EEG findings with clinical data and seizure occurrences.

Main Results:

  • Identified two distinct EEG patterns triggered by eye closure: fixation-off sensitivity (Pattern 1) and eye-closure sensitivity (Pattern 2).
  • Seizures, particularly atypical absences and myoclonic seizures, frequently occurred at or after eye closure (72% of awake seizures).
  • Both identified EEG patterns were observed in 8 out of 15 patients.

Conclusions:

  • Fixation-off and eye closure are significant seizure triggers in individuals with SYNGAP1 pathogenic variants.
  • Recognizing these electroclinical features can assist in the genetic diagnosis of SYNGAP1-related disorders.