Epilepsy

Imagine a sudden, uncontrolled surge of electrical activity in the brain disrupting normal function. This is essentially what happens during a seizure, the hallmark of a neurological condition known as epilepsy. Epilepsy is not a single disease but rather a spectrum of disorders characterised by a tendency to have recurrent, unprovoked seizures. These seizures can manifest in a variety of ways, from brief, almost imperceptible lapses in awareness to dramatic convulsions with loss of consciousness. 

The impact of epilepsy extends beyond the physical act of a seizure, often affecting a person's emotional well-being, social interactions, and overall quality of life.

Epilepsy is a chronic neurological disorder defined by recurrent, unprovoked seizures. A seizure is a sudden, brief disruption of the brain's normal electrical activity, leading to changes in movement, behaviour, feelings, and levels of consciousness. The key characteristic of epilepsy is that these seizures occur repeatedly and are not triggered by an immediate, identifiable cause such as a high fever, a head injury that just occurred, or drug withdrawal.

The brain functions through intricate networks of nerve cells (neurons) that communicate via electrical and chemical signals. During a seizure, there is an abnormal, excessive, and synchronous firing of these neurons, which can disrupt normal brain activity. The effects of this electrical storm depend on which part of the brain is affected and how widespread the abnormal activity becomes.

It's important to distinguish between a single seizure and epilepsy. Many people may experience a single seizure in their lifetime due to a specific trigger. Epilepsy is diagnosed when a person has had at least two unprovoked seizures occurring more than 24 hours apart, or one unprovoked seizure with a high probability of further seizures occurring over the next 10 years (based on factors like brain imaging or electroencephalogram (EEG) findings).

Epilepsy is a spectrum disorder, meaning that it affects individuals in different ways and with varying degrees of severity. Some people may have infrequent seizures that are well-controlled with medication, while others may experience more frequent and difficult-to-manage seizures. The type of seizures a person experiences can also vary significantly.

Epilepsy is not a monolithic condition; there are many different types of seizures and epilepsy syndromes. Understanding these distinctions is vital for accurate diagnosis and effective treatment. Seizures are broadly classified into two main categories based on where they begin in the brain:

Focal Onset Seizures (Partial Seizures): These seizures start in one area of the brain. They were previously called partial seizures. Focal seizures can be further classified based on whether the person remains aware during the seizure:

• Focal Onset Aware Seizures (Simple Partial Seizures): The person remains conscious and aware of what is happening during the seizure. Symptoms can vary widely depending on the affected area of the brain and may involve motor symptoms (e.g., twitching of a limb), sensory symptoms (e.g., tingling, flashing lights), autonomic symptoms (e.g., sweating, flushing), or psychological symptoms (e.g., sudden feelings of fear or déjà vu).
• Focal Onset Impaired Awareness Seizures (Complex Partial Seizures): The person has a change in or loss of awareness during the seizure. They may stare blankly, make repetitive movements (automatisms) such as lip-smacking, chewing, or hand movements, and may not respond to others.

Focal seizures can sometimes spread to involve both sides of the brain, leading to a focal to bilateral tonic-clonic seizure (previously called a secondarily generalised seizure). This type of seizure involves loss of consciousness and full-body stiffening (tonic phase) followed by jerking movements (clonic phase).

Generalised Onset Seizures: These seizures affect both sides of the brain from the start. There is usually a loss of consciousness. Different types of generalised seizures include:

• Tonic-Clonic Seizures (Grand Mal Seizures): As described above, these involve a loss of consciousness, body stiffening (tonic phase), and jerking movements (clonic phase). This is often what people commonly associate with a "fit."
• Absence Seizures (Petit Mal Seizures): These are brief lapses of awareness, often lasting only a few seconds. The person may stare blankly and stop what they are doing. They often begin and end abruptly, and the person may not even realise they have had a seizure. These are more common in children.
• Myoclonic Seizures: These involve sudden, brief, shock-like jerks of a muscle or group of muscles. They often occur in clusters.
• Atonic Seizures (Drop Attacks): These involve a sudden loss of muscle tone, causing the person to fall or slump.
• Tonic Seizures: These involve a sudden stiffening of the muscles.
• Clonic Seizures: These involve rhythmic jerking movements of the muscles.

Epilepsy Syndromes:

In addition to seizure types, there are also specific epilepsy syndromes, which are characterised by a cluster of features including the type of seizures, age of onset, EEG patterns, and sometimes specific causes or genetic factors. Examples include:

• Childhood Absence Epilepsy: Characterised by frequent absence seizures in children.
• Juvenile Myoclonic Epilepsy: Typically begins in adolescence and involves myoclonic jerks, often upon waking.
• Lennox-Gastaut Syndrome: A severe form of epilepsy that usually begins in early childhood and involves multiple seizure types, intellectual disability, and slow spike-and-wave patterns on EEG.
• Temporal Lobe Epilepsy: A common type of focal epilepsy originating in the temporal lobe of the brain, often associated with complex partial seizures.

Accurate classification of seizure type and epilepsy syndrome is crucial for guiding treatment and predicting prognosis.

The causes of epilepsy are diverse, and in many cases, the exact cause may not be identified (idiopathic epilepsy). However, several factors can increase the likelihood of developing epilepsy:

• Genetic Factors: Some types of epilepsy have a strong genetic basis, with specific genes or patterns of inheritance increasing susceptibility to seizures. These genetic epilepsies can manifest at different ages and with various seizure types.
• Brain Injury: Traumatic brain injury (TBI), stroke, or other types of brain damage can scar the brain tissue, leading to abnormal electrical activity and increasing the risk of epilepsy. The risk is higher with more severe injuries.
• Prenatal Injury: Problems during pregnancy or childbirth that affect brain development, such as oxygen deprivation, can increase the risk of epilepsy in the child.
• Developmental Disorders: Certain developmental disorders, such as autism spectrum disorder and cerebral palsy, are associated with a higher prevalence of epilepsy.
• Infections of the Brain: Infections like meningitis, encephalitis, and brain abscesses can cause inflammation and damage to the brain, potentially leading to epilepsy.
• Stroke and Vascular Diseases: Conditions that affect blood flow to the brain, such as stroke, arteriovenous malformations (AVMs), and cerebral aneurysms, can damage brain tissue and increase the risk of seizures, particularly in older adults.
• Brain Tumours: Tumours growing in the brain can disrupt normal electrical activity and cause seizures.
• Neurodegenerative Diseases: Conditions like Alzheimer's disease and other forms of dementia can sometimes be associated with an increased risk of late-onset epilepsy.
• Metabolic Disorders: Rare metabolic disorders that affect the body's chemistry can sometimes lead to seizures.

The symptoms of epilepsy are the seizures themselves, and these can vary dramatically depending on the type of seizure, the area of the brain involved, and the individual. It's important to remember that not all seizures involve convulsions or loss of consciousness.

Symptoms of Focal Onset Aware Seizures:

• Motor Symptoms: Twitching, jerking, or stiffening of a limb or one side of the body.
• Sensory Symptoms: Tingling, numbness, burning sensations, or a feeling of something crawling on the skin. Visual disturbances such as flashing lights or blurred vision. Auditory hallucinations like ringing or buzzing. Unusual smells or tastes.
• Autonomic Symptoms: Sweating, flushing, changes in heart rate, or stomach upset.
• Psychological Symptoms: Sudden feelings of fear, anxiety, joy, or sadness. Déjà vu (a feeling of having experienced something before) or jamais vu (a feeling of unfamiliarity with something familiar). Out-of-body sensations.

Symptoms of Focal Onset Impaired Awareness Seizures:

• Loss of awareness or responsiveness.
• Staring blankly.
• Automatisms: Repetitive, involuntary movements such as lip-smacking, chewing, swallowing, picking at clothes, or hand gestures.
• Wandering or aimless movements.
• Confusion and memory loss after the seizure.

Symptoms of Generalised Onset Tonic-Clonic Seizures:

• Sudden loss of consciousness.
• Body stiffening (tonic phase), often with a cry or groan as air is forced out of the lungs.
• Jerking movements of the arms and legs (clonic phase).
• Loss of bladder or bowel control.
• Biting of the tongue or cheek.
• Shallow or temporarily stopped breathing.
• Post-ictal phase: Confusion, drowsiness, headache, muscle soreness, and temporary weakness after the seizure.

Symptoms of Generalised Onset Absence Seizures:

• Sudden, brief lapse of awareness or consciousness.
• Staring blankly.
• May have subtle movements like eye blinking or lip smacking.
• Usually no post-ictal confusion; the person typically returns to full awareness immediately.

Symptoms of Other Generalised Seizures (Myoclonic, Atonic, Tonic, Clonic):

• Myoclonic: Sudden, brief, shock-like jerks of muscles.
• Atonic: Sudden loss of muscle tone, leading to falls or head nods.
• Tonic: Sudden stiffening of muscles.
• Clonic: Rhythmic jerking movements.

The pattern and combination of these symptoms can provide important clues for diagnosing the type of epilepsy and the affected area of the brain.

Diagnosing epilepsy involves a comprehensive evaluation that includes a detailed medical history, a neurological examination, and various diagnostic tests:

• Medical History: The doctor will ask detailed questions about the person's seizure history, including the frequency, duration, and characteristics of the seizures, any potential triggers, and any family history of epilepsy or neurological disorders. They will also inquire about past medical conditions, medications, and developmental history.
• Neurological Examination: This involves assessing the person's mental status, motor skills, sensory function, reflexes, and coordination to look for any underlying neurological deficits that might suggest a cause for the seizures.
• Electroencephalogram (EEG): This is the most important diagnostic test for epilepsy. It records the electrical activity of the brain using electrodes attached to the scalp. Abnormal patterns of brain activity, such as spikes and sharp waves, can indicate a tendency for seizures and help classify the type of epilepsy. EEG may be performed while the person is awake, asleep, or after sleep deprivation to increase the likelihood of capturing abnormal activity. Sometimes, prolonged EEG monitoring or video-EEG monitoring (where brain activity is recorded simultaneously with a video of the person) may be necessary to capture a seizure event.
• Brain Imaging (MRI or CT Scan): Magnetic resonance imaging (MRI) is often preferred as it provides more detailed images of the brain's structure. Computed tomography (CT) scans may be used in certain situations, such as in the emergency setting. Brain imaging can help identify structural abnormalities in the brain that might be causing seizures, such as tumours, scars, vascular malformations, or evidence of past stroke or infection.
• Blood Tests: Blood tests may be done to rule out other medical conditions that can cause seizures, such as electrolyte imbalances, infections, or metabolic disorders.
• Genetic Testing: In some cases, particularly when there is a strong family history of epilepsy or when a specific epilepsy syndrome is suspected, genetic testing may be performed to identify underlying genetic mutations.
• Neuropsychological Testing: This type of testing assesses cognitive functions such as memory, attention, language, and executive functions. It can help identify specific cognitive impairments associated with epilepsy or the effects of anti-epileptic medications.

The primary goal of epilepsy treatment is to control seizures and improve the person's quality of life. This is usually achieved through a combination of strategies:

• Anti-Epileptic Medications (AEDs): These are the mainstay of epilepsy treatment. There are many different types of AEDs available (Brands available: Levipil, Levera, Eptoin, Oxetol), and the choice of medication depends on the type of seizures, the person's age, other medical conditions, and potential side effects. Often, a single AED is effective in controlling seizures. If seizures are not controlled with one medication, the doctor may try a different AED or a combination of two or more AEDs. It's crucial to take AEDs regularly as prescribed and not to stop them suddenly without medical advice, as this can trigger seizures.
• Ketogenic Diet: This is a high-fat, very low-carbohydrate diet that can be effective in controlling seizures, particularly in children with difficult-to-treat epilepsy. The diet forces the body to burn fat for energy, producing ketones, which may have an anti-seizure effect. It requires careful medical supervision and dietary management.
• Vagus Nerve Stimulation (VNS): This involves surgically implanting a small device under the skin in the chest that sends mild electrical impulses to the vagus nerve in the neck. These impulses are thought to help reduce seizure frequency and severity. VNS is usually considered for people whose seizures are not well-controlled with medication.
• Responsive Neurostimulation (RNS): This is another surgically implanted device that monitors brain activity and delivers brief electrical stimulation to stop seizures as they begin. It is an option for focal onset seizures that have not responded to other treatments.
• Deep Brain Stimulation (DBS): This involves implanting electrodes in specific areas of the brain and using a device to send electrical impulses that can help regulate brain activity and reduce seizures. It is being investigated as a treatment for certain types of epilepsy.
• Epilepsy Surgery: Surgery may be an option for people whose seizures originate in a specific area of the brain that can be safely removed or disconnected. Different types of epilepsy surgery include:
  • Resective Surgery: Removing the area of the brain where seizures originate.
  • Disconnective Surgery (e.g., Corpus Callosotomy): Severing the connections between the two hemispheres of the brain to prevent seizures from spreading.
  • Laser Ablation: Using laser technology to destroy the seizure focus.

The choice of treatment depends on various factors, and a neurologist specialising in epilepsy will work with the individual to develop a personalised treatment plan.

• Family History of Epilepsy: Having a close relative with epilepsy increases the risk, particularly for genetic epilepsy syndromes.
• Early Childhood Seizures: Febrile seizures (seizures triggered by fever) are common in young children, but having complex or prolonged febrile seizures may slightly increase the risk of later developing epilepsy.
• Brain Injury: As mentioned earlier, head trauma from accidents, falls, or sports injuries can damage the brain and increase the risk of epilepsy.
• Stroke or Other Vascular Diseases: Conditions that disrupt blood flow to the brain can lead to brain damage and increase the risk of seizures, especially in older adults.
• Brain Infections: Infections of the brain, such as meningitis or encephalitis, can cause inflammation and scarring that can lead to epilepsy.
• Prenatal or Perinatal Injury: Complications during pregnancy or childbirth that affect the baby's brain development can increase the risk of epilepsy.
• Developmental Disorders: Individuals with certain neurodevelopmental disorders, such as autism spectrum disorder, cerebral palsy, and Down syndrome, have a higher risk of epilepsy.
• Alzheimer's Disease and Other Neurodegenerative Conditions: These conditions can increase the risk of late-onset epilepsy.
• Brain Tumours or Cysts: Abnormal growths in the brain can disrupt normal electrical activity and cause seizures.

Living with epilepsy can present various complications beyond the seizures themselves:

• Physical Injuries: Seizures can lead to falls, bumps, bruises, fractures, burns (if near a heat source), and even drowning if they occur in or near water.
• Aspiration: During a tonic-clonic seizure, there is a risk of inhaling saliva, food, or vomit into the lungs, which can lead to aspiration pneumonia.
• Status Epilepticus: This is a dangerous condition characterised by prolonged seizure activity (usually lasting longer than five minutes) or recurrent seizures without regaining consciousness between them. It requires immediate medical attention.
• Sudden Unexpected Death in Epilepsy (SUDEP): This is a rare but serious complication where a person with epilepsy dies suddenly and unexpectedly, and no other cause of death is found. The exact mechanisms are not fully understood, but better seizure control is thought to reduce the risk.
• Psychological Problems: People with epilepsy are at a higher risk of developing anxiety, depression, and other mood disorders due to the challenges of living with a chronic and unpredictable condition.
• Cognitive Impairment: Frequent or severe seizures, as well as some AEDs, can sometimes affect memory, attention, and other cognitive functions.
• Social Stigma and Discrimination: Unfortunately, there can still be stigma and misunderstanding surrounding epilepsy, which can lead to social isolation, difficulties in employment and education, and reduced self-esteem.
• Driving Restrictions: Many countries have regulations regarding driving for people with epilepsy to ensure safety. These restrictions can impact independence and mobility.
• Pregnancy Complications: Women with epilepsy require careful management during pregnancy due to the potential risks of seizures to both the mother and the baby, as well as the effects of AEDs on fetal development.

• Take Medications Regularly: Adhere strictly to the prescribed dosage and schedule for anti-epileptic medications. Use reminders if needed and never stop or change medications without consulting your doctor.
• Get Enough Sleep: Sleep deprivation is a common seizure trigger. Aim for a consistent and adequate sleep schedule.
• Manage Stress: Identify your stress triggers and practice relaxation techniques such as mindfulness, deep breathing, or yoga.
• Maintain a Healthy Lifestyle: Eat a balanced diet, engage in regular moderate exercise (with appropriate safety precautions), and avoid excessive alcohol and drug use.
• Identify and Avoid Triggers: Keep a seizure diary to track seizures and potential triggers (e.g., sleep deprivation, stress, flashing lights, illness).
• Inform Others: Educate family members, friends, and colleagues about your epilepsy and what to do if you have a seizure. Consider wearing a medical identification bracelet or necklace.
• Plan Ahead: If you are travelling or engaging in activities that might carry a risk (e.g., swimming), take necessary precautions and inform others about your condition.
• Learn First Aid for Seizures: Educate those around you on how to provide basic seizure first aid (e.g., protect the person from injury, do not restrain them, do not put anything in their mouth, time the seizure).
• Advocate for Yourself: Be proactive in learning about your condition and communicating your needs and concerns to your healthcare team and others.

Misconception 1: Epilepsy is contagious.

Reality: Epilepsy is a neurological disorder caused by abnormal brain activity and is not infectious.

Misconception 2: People with epilepsy are intellectually disabled or mentally ill.

Reality: While some epilepsy syndromes can be associated with intellectual disability or mental health conditions, the majority of people with epilepsy have normal intelligence and mental health.

Misconception 3: You should put something in a person's mouth during a seizure to prevent them from swallowing their tongue.

Reality: This is dangerous and can cause injury to the person's teeth and jaw or obstruct their airway. It is physically impossible to swallow your tongue during a seizure. The priority is to protect the person from injury and turn them onto their side to keep their airway clear.

It's important to consult a doctor if you experience any symptoms suggestive of a seizure or if you have been diagnosed with epilepsy and experience any of the following:

• First-time seizure.
• Increased frequency or severity of seizures.
• Changes in seizure type.
• Seizures lasting longer than usual or cluster seizures.
• New or worsening side effects from anti-epileptic medications.
• Signs of status epilepticus (prolonged seizure or repeated seizures without regaining consciousness). This requires immediate medical attention.
• Any significant changes in your overall health or well-being.
• If you are planning to become pregnant or are pregnant. Women with epilepsy require specialised care during pregnancy.

• What type of epilepsy or seizures do I have?
• What are the possible causes of my epilepsy?
• What are the treatment options for me?
• What are the potential benefits and risks of each treatment option?
• Which anti-epileptic medication do you recommend, and what are the potential side effects?
• How often will I need to take my medication?
• What should I do if I miss a dose of medication?
• Are there any lifestyle changes I should make?
• What are my driving restrictions?
• Are there any activities I should avoid?
• What should I do if I have a seizure?
• What are the signs of a seizure that requires emergency medical attention?

Supporting someone with epilepsy involves empathy, understanding, and practical assistance:

• Know Their Seizure Action Plan: If the person has a seizure action plan from their doctor, familiarise yourself with it and know what to do during and after a seizure.
• Challenge Stigma: Speak out against misconceptions and discrimination related to epilepsy.
• Encourage Independence: Support them in living as independently as possible and pursuing their goals.
• Respect Their Privacy: Be mindful of their privacy regarding their medical condition.
• Know When to Seek Help: Be aware of the signs of status epilepticus or other situations requiring emergency medical attention.

Epilepsy is a complex neurological condition characterised by recurrent, unprovoked seizures. While living with epilepsy presents unique challenges, advancements in treatment, coupled with proactive self-management strategies and strong social support, enable many individuals to lead full and meaningful lives.