What is Epilepsy?

Epilepsy is a chronic brain disorder where groups of nerve cells, called neurons, sometimes send incorrect signals, leading to seizures. Neurons send electrical and chemical signals to communicate with other neurons, organs as well as muscles and other cells. Smooth functioning of this network is crucial as this network is responsible for controlling our thoughts, emotions and actions. During a seizure, many neurons send signals all at once and much faster than usual. This sudden burst of electrical activity can cause uncontrolled movements, unusual sensations, emotions, or behaviors. It can also lead to a loss of awareness. Some people feel normal right after a seizure, while others may need minutes to hours to fully recover, during which they might feel tired, weak, confused, or sleepy. Some seizures may lead to injuries, either from falls or accidents. If seizures happen repeatedly without a clear cause, it is considered epilepsy. 

Symptoms of Epilepsy

Epilepsy can have some unpredictable symptoms. The exact cause of epilepsy is often unknown, but it can result from brain injuries, strokes, infections, tumors, or birth defects. In rare cases, genetic mutations play a role. Doctors diagnose epilepsy by ruling out other conditions like fainting or electrolyte imbalances. Tests like brain scans, blood tests, and EEGs (which track brain activity) help confirm the diagnosis, though a normal EEG doesn’t always mean a person is seizure-free. Epilepsy is associated with mild to moderate-severe ID. However, patients with normal psychomotor development have also been reported. Psychiatric comorbidities are the most frequent and include autistic-like disorders, hyperactive and/or attention-deficit and behavioral disturbances. Obsessive traits and a risk of psychotic behavior may also occur.

How is Epilepsy Diagnosed?

Diagnosing epilepsy isn’t always straightforward because seizures can be caused by many factors. Doctors use a combination of medical history, physical exams, and advanced tests to confirm epilepsy and rule out other conditions.

• Medical History & Symptoms:Doctors ask about the type of seizures, triggers, and family history. Witness accounts from family or friends help provide details on what happens during a seizure.

• Neurological Exam: This checks brain function, reflexes, muscle control, and coordination to detect any abnormalities.

• Electroencephalogram (EEG): An EEG records brain activity and can show abnormal electrical patterns linked to epilepsy. However, a normal EEG doesn’t always rule out the condition.

• Brain Imaging (MRI & CT scans): These scans detect brain abnormalities like tumors, strokes, or structural issues that might cause seizures.

• Blood Tests: Bloodwork helps rule out other causes like infections, metabolic disorders, or genetic conditions.

Additional Tests may include- video EEG monitoring which captures real-time brain activity during a seizure, Lumbar Puncture to check for infections affecting the brain as well as Genetic Testing is also used in some cases to identify inherited epilepsy. Since epilepsy can be mistaken for other conditions like fainting or migraines, an accurate diagnosis is crucial for proper treatment.

Managing Drug-Resistant Epilepsy: Treatment Approaches

Epilepsy, especially in early childhood, is often resistant to treatment. Patients rarely rely on a single medication, and no specific combination of anti-seizure medications (ASMs) has been proven to be the best. Unlike Dravet syndrome, there is no clear evidence that sodium channel blockers like lamotrigine and carbamazepine worsen seizures in these cases. A multi-center study found that potassium bromide and clobazam were among the most effective ASMs for patients with PCDH19 mutations. Other commonly used medications include valproic acid, stiripentol, and levetiracetam, though levetiracetam's effects may be temporary. Perampanel, intravenous phenytoin, and phenobarbital have also shown success in stopping seizure clusters.

Corticosteroids are sometimes used but only provide short-term relief without long-term seizure control. A clinical trial with ganaxolone, a synthetic neurosteroid, showed promising results but did not achieve significant statistical impact. Additionally, the ketogenic diet (KD) is often used as an effective supportive therapy.

Conclusion:

Diagnosing epilepsy requires multiple tests to ensure accuracy and rule out other conditions. Future research focuses on AI-driven EEG analysis, genetic testing, and wearable seizure monitors to improve early detection and personalized treatment. Advances in biomarkers and neuroimaging may further refine diagnosis, leading to better patient outcomes. Ongoing research brings hope for more precise and effective epilepsy management.