The impact of precision medicine and neurostimulation devices can be a game changer in treating epilepsy. Personalised treatment in epilepsy strategy aims to improve overall patient outcomes by maximising therapy efficacy while reducing side effects. Dr Shiva Kumar R, Head and Senior Consultant Epileptologist & Neurologist, Manipal Hospital Sarjapur Road reveals more
In epilepsy, personalised treatment refers to patient-centred medical or surgical care determined by multiple factors, including the type of seizure lifestyle factors, genetic profile, reaction to anti-epileptic medications (AEMs), and related comorbidities. This strategy aims to improve overall patient outcomes by maximising therapy efficacy while reducing side effects.
Genetic Testing in Epilepsy Treatment
Since genetic variables significantly influence epilepsy, genetic testing becomes an essential part of individualised treatment. Genetic testing helps identify particular mutations or genetic disorders and assists in determining the best anti-seizure medicine (ASM) for seizure management. Additionally, it improves therapy safety and efficacy, predicts drug response, and facilitates early diagnosis.
For instance, certain diets like the ketogenic diet or modified Atkins diets may help treat some types of epilepsy, particularly in youngsters. These diets are customised to meet the demands of each person, taking into account variables including age, weight, and the body's reaction to food. The ketogenic diet has been demonstrated to be especially beneficial in situations of genetic diseases such as glucose transporter type 1 (GLUT1) deficiency, which causes epilepsy.
Pharmacogenomics: Tailoring Medication for Epilepsy
When choosing the appropriate treatment and dose for people with epilepsy, the study of how genes affect drug response can be important. For example, genetic differences may impact the body's metabolism of medications such as phenytoin, valproate, or carbamazepine. Clinicians can modify dosages to maximise efficacy and lower the risk of side effects by being aware of this genetic profile.
Treatment for Drug-Resistant Epilepsy
Neuromodulation therapies, such as vagus nerve stimulation (VNS), responsive neurostimulation (RNS), or deep brain stimulation (DBS), may be considered for patients who do not respond well to medications. These devices are customised based on the patient's seizure patterns and the regions of the brain involved in seizure generation, and they work by either stimulating or inhibiting specific areas involved in seizure generation.
- Vagus nerve stimulation (VNS): The device is implanted beneath the skin of the chest, sending regular electrical impulses to the vagus nerve, which can influence brain regions involved in seizure activity. VNS has been shown to decrease the frequency and severity of seizures.
- Response Neurostimulation (RNS): This more sophisticated treatment tracks brain activity in real time and stimulates the brain directly to stop seizures as they start.
- Deep Brain Stimulation (DBS): DBS helps regulate seizure activity by implanting electrodes deep into particular brain regions, typically the thalamus or subthalamic nucleus.
Surgery for Epilepsy
Patients with drug-resistant epilepsy may be candidates for epilepsy surgery using stereo-EEG and intracranial EEG monitoring. Comprehensive testing, such as high-resolution MRI, functional magnetic resonance imaging (MRI), or PET scans, can be utilised to map brain activity and identify the seizure-causing region before surgery. This gives the best chance of controlling seizures by ensuring that surgery targets the right part of the brain.
Lifestyle and Environmental Factors
Environmental factors that may cause seizures are also taken into account in a personalised therapy approach. These may include flashing lights, stress, or lack of sleep. By recognising these triggers, medical professionals can offer coping mechanisms like cognitive behavioural therapy (CBT) or relaxation methods.
Comprehensive Care and Comorbidities
Comorbid disorders including anxiety, depression, or cognitive problems are common in people with epilepsy. Better overall health results may result from addressing these coexisting medical issues as part of a customised treatment approach. The patient will receive comprehensive care if treatment is tailored to take into account both epilepsy and concomitant comorbidities.
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Treatments that target particular biological pathways, like ion channel alterations, may be more successful in cases where epilepsy is caused by genetic mutations
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Treatment Objectives and Patient Preferences
Lastly, the patient's preferences, way of life, and treatment objectives must all be taken into account. Whether a patient prefers a non-pharmacological approach, is concerned about pharmaceutical side effects, or is open to investigating surgery, a personalised treatment plan should integrate these preferences into the decision-making process.
Epilepsy Precision Medicine
The goal of precision medicine in epilepsy is to treat each patient according to their unique genetic, environmental, and lifestyle characteristics, as well as the type and underlying cause of their epilepsy. Precision medicine enables more focused and efficient interventions by eschewing a one-size-fits-all strategy and taking into account how each person's biological composition affects how they react to drugs and treatments.
Since many types of epilepsy are associated with genetic abnormalities, genetic testing is essential to precision treatment. Doctors can customise treatment for each type of epilepsy by identifying genetic anomalies. For example, genetic alterations are associated with syndromes such as Dravet syndrome, Lennox-Gastaut syndrome, and others, and treatment outcomes can be greatly enhanced by early detection.
Treatments that target particular biological pathways, like ion channel alterations, may be more successful in cases where epilepsy is caused by genetic mutations. Replacement therapy can be used to treat or perhaps cure some metabolic problems linked to seizures. For instance, in people with biotin insufficiency, biotin treatment can reverse symptoms, including seizures.
To conclude, personalised treatment in epilepsy with the inclusion of precision medicine and neurostimulation technology, is a new hope for people with epilepsy. In addition to focussing on lifestyle, environmental, and hereditary factors, this strategy helps maximise therapy effectiveness while minimising side effects by customising medicines to each patient's specific needs. Individualised care and the quality of life for those with epilepsy will be further improved by ongoing developments in neuromodulation therapies, pharmacogenomics, and genetic testing.
