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Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

244
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...
244
Seizures: Classification01:13

Seizures: Classification

539
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:
539
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

481
Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
481
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

246
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...
246
Electroconvulsive Therapy01:30

Electroconvulsive Therapy

116
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...
116
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

408
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...
408

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Generation of Human Brain Organoids for Mitochondrial Disease Modeling
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Mitochondrial Epilepsy, a Challenge for Neurologists.

Piervito Lopriore1, Fábio Gomes2, Vincenzo Montano1

  • 1Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.

International Journal of Molecular Sciences
|November 11, 2022
PubMed
Summary

Mitochondrial epilepsy, a common neurological disorder, arises from energy metabolism errors affecting the brain. Advances in understanding its genetic causes and developing treatments are crucial for improving patient outcomes.

Keywords:
Leigh syndromeMELASMERRFPOLG-related disordersepilepsymitochondrial epilepsyprimary mitochondrial diseasestroke-like episode

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Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Primary mitochondrial diseases are common inborn errors of energy metabolism affecting high-energy tissues like the brain.
  • Epilepsy is a prevalent neurological illness, frequently presenting as a key feature or part of a multisystem condition in mitochondrial disease.
  • Mitochondrial epilepsy poses treatment challenges and is often associated with a poor prognosis.

Purpose of the Study:

  • To review recent advancements in the understanding and management of mitochondrial epilepsy.
  • To cover the pathophysiology, genetic causes, clinical presentation, and treatment options for mitochondrial epilepsy.

Main Methods:

  • This narrative review synthesizes current literature on mitochondrial epilepsy.
  • Focuses on recent research regarding genetic etiologies, pathophysiology, and clinical phenotypes.
  • Examines current and emerging treatment strategies.

Main Results:

  • Mutations in mitochondrial DNA and the POLG gene are primary genetic causes of mitochondrial epilepsy.
  • Mitochondrial epilepsy often presents as part of a broader multisystem disorder.
  • Treatment strategies for mitochondrial epilepsy are complex and evolving.

Conclusions:

  • Mitochondrial epilepsy is a significant clinical challenge linked to specific genetic mutations.
  • Further research into pathophysiology and genetics is essential for improved therapeutic approaches.
  • Advances in understanding and treatment offer hope for better patient management and prognosis.