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

Antiepileptic Drugs: GABAergic Pathway Potentiators

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 their...
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 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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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Gemma L Carvill1, Brigid M Regan, Simone C Yendle

  • 1Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.

Nature Genetics
|August 13, 2013
PubMed
Summary

Researchers identified GRIN2A gene variants as the first known monogenic cause for epilepsy-aphasia syndromes (EAS), a severe neurodevelopmental disorder. This finding impacts diagnostic approaches and treatment strategies for EAS patients.

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Area of Science:

  • Neurogenetics
  • Epileptology
  • Developmental Neuroscience

Background:

  • Epilepsy-aphasia syndromes (EAS) are rare, severe epileptic encephalopathies characterized by specific EEG patterns and language regression.
  • The etiology of EAS is largely unknown, though deletions involving the GRIN2A gene have been linked to other neurodevelopmental disorders.

Purpose of the Study:

  • To investigate the potential role of GRIN2A gene variants in the pathogenesis of epileptic encephalopathies, including EAS.
  • To identify the genetic underpinnings of EAS and establish a potential monogenic cause.

Main Methods:

  • Genetic analysis of GRIN2A variants in 519 probands with various epileptic encephalopathies.
  • Segregation analysis within families to confirm the pathogenicity of identified variants.
  • Comparison with control groups, including probands with other epilepsy types.

Main Results:

  • GRIN2A variants were identified in four probands, all presenting with EAS, accounting for 9% of the studied EAS cases.
  • No pathogenic GRIN2A variants were found in other epileptic encephalopathies (n=475) or benign childhood epilepsy with centrotemporal spikes (n=81).
  • This study reports the first identified monogenic cause for EAS.

Conclusions:

  • GRIN2A mutations are specifically associated with epilepsy-aphasia syndromes, not other epileptic encephalopathies.
  • This discovery has significant implications for the diagnosis and potential targeted treatments of EAS.
  • The findings provide crucial insights into the molecular mechanisms underlying EAS.