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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Epilepsy and Seizures: Overview01:24

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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...
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Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

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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.
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Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

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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.
Ezogabine has gained approval as an adjunctive treatment...
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Antiepileptic Drugs: Glutamate Antagonists01:14

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

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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.
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...
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Genomics-Guided Precise Anti-Epileptic Drug Development.

Norman Delanty1,2, Gianpiero Cavalleri3

  • 1Department of Neurology, Beaumont Hospital, Royal College of Surgeons in Ireland, Dublin, Ireland. normandelanty@beaumont.ie.

Neurochemical Research
|June 14, 2017
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Genomic medicine is revolutionizing epilepsy treatment by identifying molecular causes. This precision approach guides the development of targeted therapies, complementing traditional drug discovery for better patient outcomes.

Keywords:
Anti-epileptic drug developmentEpilepsyGenomicsPrecision therapeutics

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Area of Science:

  • Genomic medicine and epilepsy research
  • Precision therapeutics development

Background:

  • Traditional antiepileptic drug development is etiology-agnostic.
  • Epilepsy has diverse molecular genetic causes, including early-onset epileptic encephalopathies and familial focal epilepsies.

Purpose of the Study:

  • To explore the promise of genomics-guided drug development in epilepsy.
  • To highlight how precision diagnostics can lead to targeted therapeutics.

Main Methods:

  • Leveraging international collaborations to unravel genetic causes of epilepsy.
  • Utilizing advances in precision diagnostics, including whole exome and whole genome sequencing.
  • Identifying specific genetic mutations and their corresponding therapeutic targets.

Main Results:

  • Genomic medicine is enabling precise molecular diagnoses in individual epilepsy patients.
  • Examples of precision therapeutics include everolimus for tuberous sclerosis complex, quinidine for KCNT1 mutations, and ketogenic diet for GLUT-1 deficiency.

Conclusions:

  • Genomics-guided drug development offers a complementary approach to traditional epilepsy treatment models.
  • Precision diagnostics and therapeutics hold significant promise for advancing epilepsy care.