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Epilepsy

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Description: Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures due to abnormal electrical activity in the brain.
Type: Epilepsy can be classified into various types based on seizure types and syndromes, such as focal, generalized, and combined generalized and focal epilepsy. The genetic transmission of epilepsy can vary; it can be inherited in an autosomal dominant, autosomal recessive, X-linked, or mitochondrial manner, depending on the specific form of epilepsy. However, many cases are complex and involve a combination of genetic and environmental factors without a clear Mendelian pattern.
Signs And Symptoms: Epilepsy is characterized by a long-term risk of recurrent epileptic seizures. These seizures may present in several ways depending on the parts of the brain involved and the person's age.
Prognosis: Epilepsy cannot usually be cured, but medication can control seizures effectively in about 70% of cases. Of those with generalized seizures, more than 80% can be well controlled with medications while this is true in only 50% of people with focal seizures. One predictor of long-term outcome is the number of seizures that occur in the first six months. Other factors increasing the risk of a poor outcome include little response to the initial treatment, generalized seizures, a family history of epilepsy, psychiatric problems, and waves on the EEG representing generalized epileptiform activity. In the developing world, 75% of people are either untreated or not appropriately treated. In Africa, 90% do not get treatment. This is partly related to appropriate medications not being available or being too expensive.
Onset: The onset of epilepsy can occur at any age, but it is most commonly diagnosed in childhood or in people over the age of 60. It involves abnormal electrical activity in the brain, leading to recurrent, unprovoked seizures.
Prevalence: Epilepsy is a common neurological disorder characterized by recurrent, unprovoked seizures. As of recent estimates, the worldwide prevalence of epilepsy is approximately 0.5-1% of the global population, meaning it affects around 50-70 million people globally.
Epidemiology: Epilepsy is one of the most common serious neurological disorders affecting about 39 million people as of 2015. It affects 1% of the population by age 20 and 3% of the population by age 75. It is more common in males than females with the overall difference being small. Most of those with the disorder (80%) are in low income populations or the developing world.The estimated prevalence of active epilepsy (as of 2012) is in the range 3–10 per 1,000, with active epilepsy defined as someone with epilepsy who has had a least one unprovoked seizure in the last five years. Epilepsy begins each year in 40–70 per 100,000 in developed countries and 80–140 per 100,000 in developing countries. Poverty is a risk and includes both being from a poor country and being poor relative to others within one's country. In the developed world epilepsy most commonly starts either in the young or in the old. In the developing world its onset is more common in older children and young adults due to the higher rates of trauma and infectious diseases. In developed countries the number of cases a year has decreased in children and increased among the elderly between the 1970s and 2003. This has been attributed partly to better survival following strokes in the elderly.
Intractability: Epilepsy is not inherently intractable, but some cases can be classified as intractable or drug-resistant. Intractable epilepsy refers to seizures that are not adequately controlled by medical treatments after trying two or more appropriate medications. It typically requires specialized care, which may include alternative treatments like surgery, neurostimulation, or dietary therapies.
Disease Severity: Disease Severity: Epilepsy severity can vary widely among individuals. In some cases, epilepsy can be well-controlled with medication, allowing for minimal impact on daily life. In others, it can be more severe, leading to frequent seizures that are difficult to manage, potentially causing significant impairment in quality of life.

Nan: Sorry, this term does not directly relate to information typically provided about epilepsy. Nan often stands for "not a number" in data contexts but is not commonly used to describe aspects of disease. Please clarify if you meant something specific.
Healthcare Professionals: Disease Ontology ID - DOID:1826
Pathophysiology: Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. The pathophysiology of epilepsy involves abnormal, excessive, and synchronous neuronal activity in the brain. This can result from various factors, including genetic mutations, structural brain abnormalities, infections, metabolic disturbances, or traumatic brain injury. These factors can disrupt the normal balance between excitatory and inhibitory signals in the brain, leading to hyperexcitability and the spontaneous generation of epileptic seizures.
Carrier Status: Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. It is not typically referred to in terms of "carrier status," as it is not a single-gene disorder that one can carry in a recessive form like some hereditary conditions. Instead, epilepsy can result from a variety of genetic, structural, and metabolic factors. While genetic mutations can predispose individuals to epilepsy, the condition itself is not carried in the way that genetic carriers are defined for diseases such as cystic fibrosis or sickle cell anemia.
Mechanism: Normally brain electrical activity is non-synchronous, as large numbers of neurons do not normally fire at the same time, but rather fire in order as signals travel throughout the brain. Neuron activity is regulated by various factors both within the cell and the cellular environment. Factors within the neuron include the type, number and distribution of ion channels, changes to receptors and changes of gene expression. Factors around the neuron include ion concentrations, synaptic plasticity and regulation of transmitter breakdown by glial cells.
Treatment: Epilepsy treatment typically includes antiepileptic drugs (AEDs) to control seizures. In cases where medications are not effective, other options include:

1. **Surgical Intervention**: Removing or altering the area of the brain where seizures originate.
2. **Neurostimulation Devices**: Vagus nerve stimulation (VNS), responsive neurostimulation (RNS), or deep brain stimulation (DBS).
3. **Dietary Changes**: Ketogenic or modified Atkins diet, particularly for children whose seizures are not well controlled by medication.
4. **Lifestyle Modifications**: Stress management, regular sleep patterns, and avoiding seizure triggers.

For specific treatments, consulting a healthcare professional is essential.
Compassionate Use Treatment: Compassionate use treatments and off-label or experimental treatments for epilepsy are options generally considered when patients have not responded to standard therapies.

1. **Compassionate Use Treatment**:
- Compassionate use, also known as expanded access, refers to the use of investigational drugs outside of clinical trials. This is typically considered for patients with serious or life-threatening conditions who have no other treatment options.
- For epilepsy, medications still in clinical trials, such as novel antiepileptics, might be accessed through compassionate use programs.

2. **Off-Label Treatments**:
- Off-label use means prescribing medications that are approved for other conditions but not specifically for epilepsy. Some examples include:
- **Clozapine**: An antipsychotic sometimes used off-label for refractory epilepsy.
- **Topiramate** and **Lamotrigine**: Anti-seizure medications might be used in dosages or combinations not originally approved by regulatory agencies.

3. **Experimental Treatments**:
- These include therapies under investigation in clinical trials. Examples:
- **Cannabidiol (CBD)**: Already approved for certain types of epilepsy like Dravet syndrome and Lennox-Gastaut syndrome, but ongoing research is exploring broader applications.
- **Gene therapy**: Experimental approaches that aim to correct genetic defects causing some forms of epilepsy.
- **Responsive Neurostimulation (RNS)**: Emerging neurostimulation techniques designed to detect and respond to seizure activity in real time.

Consultation with medical professionals and careful consideration of risks and benefits are crucial when exploring these treatments.
Lifestyle Recommendations: For epilepsy, here are some lifestyle recommendations to help manage the condition:

1. **Medication Adherence**: Consistently take prescribed medications as directed by a healthcare provider.
2. **Sleep**: Ensure adequate and regular sleep, as sleep deprivation can trigger seizures.
3. **Stress Management**: Practice stress-reducing techniques such as yoga, meditation, or deep-breathing exercises.
4. **Diet**: Maintain a balanced diet; some individuals may benefit from specific diets like the ketogenic diet, but this should be discussed with a healthcare professional.
5. **Alcohol**: Limit or avoid alcohol consumption, as it can interfere with medications and trigger seizures.
6. **Avoid Triggers**: Identify and avoid known seizure triggers, such as flashing lights, lack of sleep, or specific dietary elements.
7. **Regular Exercise**: Engage in regular, moderate physical activity which can help reduce stress and improve overall health.
8. **Safety Precautions**: Take safety measures to prevent injury during a seizure, such as showering instead of bathing, and ensuring a safe environment.
9. **Education and Support**: Educate yourself and those around you about epilepsy, and consider joining a support group for additional help and resources.
10. **Regular Check-ups**: Keep regular appointments with your healthcare provider to monitor the condition and make necessary adjustments to treatment.
Medication: The mainstay treatment of epilepsy is anticonvulsant medications, possibly for the person's entire life. The choice of anticonvulsant is based on seizure type, epilepsy syndrome, other medications used, other health problems, and the person's age and lifestyle. A single medication is recommended initially; if this is not effective, switching to a single other medication is recommended. Two medications at once is recommended only if a single medication does not work. In about half, the first agent is effective; a second single agent helps in about 13% and a third or two agents at the same time may help an additional 4%. About 30% of people continue to have seizures despite anticonvulsant treatment.There are a number of medications available including phenytoin, carbamazepine and valproate. Evidence suggests that phenytoin, carbamazepine, and valproate may be equally effective in both focal and generalized seizures. Controlled release carbamazepine appears to work as well as immediate release carbamazepine, and may have fewer side effects. In the United Kingdom, carbamazepine or lamotrigine are recommended as first-line treatment for focal seizures, with levetiracetam and valproate as second-line due to issues of cost and side effects. Valproate is recommended first-line for generalized seizures with lamotrigine being second-line. In those with absence seizures, ethosuximide or valproate are recommended; valproate is particularly effective in myoclonic seizures and tonic or atonic seizures. If seizures are well-controlled on a particular treatment, it is not usually necessary to routinely check the medication levels in the blood.The least expensive anticonvulsant is phenobarbital at around US$5 a year. The World Health Organization gives it a first-line recommendation in the developing world and it is commonly used there. Access, however, may be difficult as some countries label it as a controlled drug.Adverse effects from medications are reported in 10% to 90% of people, depending on how and from whom the data is collected. Most adverse effects are dose-related and mild. Some examples include mood changes, sleepiness, or an unsteadiness in gait. Certain medications have side effects that are not related to dose such as rashes, liver toxicity, or suppression of the bone marrow. Up to a quarter of people stop treatment due to adverse effects. Some medications are associated with birth defects when used in pregnancy. Many of the common used medications, such as valproate, phenytoin, carbamazepine, phenobarbital, and gabapentin have been reported to cause increased risk of birth defects, especially when used during the first trimester. Despite this, treatment is often continued once effective, because the risk of untreated epilepsy is believed to be greater than the risk of the medications. Among the antiepileptic medications, levetiracetam and lamotrigine seem to carry the lowest risk of causing birth defects.Slowly stopping medications may be reasonable in some people who do not have a seizure for two to four years; however, around a third of people have a recurrence, most often during the first six months. Stopping is possible in about 70% of children and 60% of adults. Measuring medication levels is not generally needed in those whose seizures are well controlled.
Repurposable Drugs: Repurposable drugs for epilepsy include:

1. **Clozapine**: Initially used as an antipsychotic, it's shown potential in treating refractory epilepsy.
2. **Zonisamide**: An anti-seizure medication that has also been used for mood stabilization.
3. **Gabapentin**: Originally for neuropathic pain, it’s utilized for seizure control.
4. **Topiramate**: An anticonvulsant with applications in migraine prevention and weight loss.
5. **Valproate**: Used both as an anticonvulsant and mood stabilizer for bipolar disorder.

Research is ongoing to determine the full efficacy and safety profiles of these repurposed drugs for epilepsy.
Metabolites: In the context of epilepsy, certain metabolites have been studied for their potential role in the disease. Key metabolites include:

1. **Ketone Bodies:** Elevated levels, such as beta-hydroxybutyrate and acetoacetate, are often seen in ketogenic diet therapy, which can help reduce seizure frequency.
2. **Glutamate:** An excitatory neurotransmitter, elevated levels can contribute to seizure activity.
3. **GABA (Gamma-Aminobutyric Acid):** An inhibitory neurotransmitter, reduced levels can be associated with seizures.
4. **Lactate:** Elevated levels may be observed during and after seizures, indicating metabolic stress.
Nutraceuticals: Nutraceuticals for epilepsy are dietary supplements that may have a therapeutic effect on seizure control. Common examples include omega-3 fatty acids, vitamins such as B6, B9 (folic acid), and D (vitamin D3), as well as minerals like magnesium and zinc. There is ongoing research into their efficacy, with some studies suggesting they can support overall brain health and potentially reduce seizure frequency.

Nanolithography (nan) in epilepsy research involves the development of nanoscale devices and systems for drug delivery and monitoring. Nanotechnology can create targeted drug delivery systems that cross the blood-brain barrier more effectively, delivering anti-epileptic drugs directly to the seizure focus, potentially reducing side effects and improving efficacy. Additionally, nanosensors are being explored for real-time monitoring of seizure activity, which could lead to advancements in prompt and personalized treatment strategies.
Peptides: Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. Regarding peptides and nanoparticles (nan):

**Peptides**:
- Certain peptides have shown potential in modulating neuronal activity and reducing seizure frequency.
- Research is ongoing into the use of neuropeptides such as galanin and neuropeptide Y, which have anticonvulsant effects.

**Nanoparticles (nan)**:
- Nanoparticles are being explored for their ability to deliver antiepileptic drugs directly to the brain, improving efficacy and reducing side effects.
- Polymeric nanoparticles, liposomes, and dendrimers are among the types being researched for controlled and targeted drug delivery in epilepsy treatment.