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Related Concept Videos

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:
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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.
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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.
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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.
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Related Experiment Video

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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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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Egidio Spinelli1, Kyle R Christensen2, Emily Bryant3,4

  • 1Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

Annals of Neurology
|June 29, 2021
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Summary

MAST3 gene variants are linked to epilepsy, particularly developmental and epileptic encephalopathy. These variants may cause a gain-of-function in excitatory neurons, contributing to drug-resistant seizures.

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Area of Science:

  • Neurogenetics
  • Molecular Neurology

Background:

  • The MAST family of serine-threonine kinases (STKs) are implicated in brain development.
  • MAST1 variants are known to cause neurodevelopmental disorders.
  • The role of other MAST family members, like MAST3, in neurological disease is less understood.

Purpose of the Study:

  • To investigate the association of MAST3 gene variants with epilepsy.
  • To determine the functional impact of identified MAST3 variants on its target phosphorylation.
  • To elucidate the expression pattern of MAST3 in the brain.

Main Methods:

  • Exome sequencing to identify MAST3 variants in individuals with epilepsy.
  • In vitro functional assays using HEK293T cells to assess MAST3 kinase activity and target phosphorylation (ARPP-16).
  • Single-nuclei RNA sequencing and immunohistochemistry to determine MAST3 expression in brain tissue.

Main Results:

  • De novo missense variants in the MAST3 serine-threonine kinase (STK) domain were identified in 11 individuals with developmental and epileptic encephalopathy.
  • Recurrent variants p.G510S and p.G515S were found in multiple patients.
  • Patient-derived MAST3 variants showed altered protein expression and increased phosphorylation of its target, ARPP-16, suggesting a gain-of-function mechanism.
  • MAST3 is expressed in excitatory neurons in the cortex during late prenatal development and postnatally.

Conclusions:

  • MAST3 is identified as a novel gene associated with epilepsy.
  • A potential gain-of-function mechanism, primarily in cortical excitatory neurons, underlies MAST3-associated epilepsy.
  • These findings highlight MAST3 as a potential therapeutic target for specific epilepsy syndromes.