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Related Concept Videos

Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

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...
Seizures: Classification01:13

Seizures: Classification

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:
Seizures ll: Types01:19

Seizures ll: Types

Seizures are sudden bursts of abnormal electrical discharge in the brain that interfere with normal function. They are commonly divided into three groups: focal seizures, generalized seizures, and other types that do not fit neatly into either category.Focal SeizuresFocal seizures begin in a single brain region. When awareness is preserved, they are called focal aware seizures and may cause sensations such as tingling, unusual smells, or flashing lights. When awareness is impaired, they are...
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

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...
Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...

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Related Experiment Video

Updated: May 18, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Atypical face shape and genomic structural variants in epilepsy.

Krishna Chinthapalli1, Emanuele Bartolini, Jan Novy

  • 1Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

Brain : a Journal of Neurology
|September 15, 2012
PubMed
Summary

Computer analysis of 3D face images detects subtle facial differences in individuals with epilepsy and pathogenic structural variants. This objective method aids in identifying genetic risk factors for epilepsy and understanding facial development.

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Area of Science:

  • Genetics
  • Medical Imaging
  • Neurology

Background:

  • Pathogenic structural variants in the human genome are linked to facial dysmorphism and epilepsy.
  • Objective assessment of face shape using 3D stereophotogrammetry is established in other fields.

Purpose of the Study:

  • To investigate if computer-based analysis of 3D face images can detect subtle facial abnormalities in individuals with epilepsy carrying pathogenic structural variants.
  • To assess the predictive accuracy of this method in identifying such individuals.

Main Methods:

  • Utilized 3D stereophotogrammetry and dense surface models to capture facial images.
  • Applied an objective measure, Face Shape Difference, to analyze whole face, periorbital, and perinasal regions.
  • Validated the findings in two patient cohorts and explored genetic correlations using bioinformatics.

Main Results:

  • Individuals with pathogenic structural variants exhibited significantly more atypical face shapes compared to controls.
  • The Face Shape Difference measure demonstrated high sensitivity and specificity in predicting the presence of pathogenic structural variants.
  • Results were robust across various factors including facial injury, expression, intellectual disability, and drug history.

Conclusions:

  • Objective 3D facial analysis is a powerful tool for detecting subtle abnormalities in individuals with structural variants.
  • This method can aid in identifying epilepsy risk associated with genetic variants and offers insights into facial development genetics.