“Epilepsy is not a life sentence—it’s a journey. Understanding its causes and symptoms is the first step toward better management Epilepsy is a neurological disorder that includes multiple conditions and causes. Understanding epilepsy causes and symptoms is crucial for an accurate diagnosis and effective treatment.”
Despite being one of the world’s oldest known medical conditions, public fear and misunderstanding about epilepsy persist, making many people reluctant to talk about it. That reluctance leads to lives lived in the shadows, lack of understanding about individual risk, and discrimination in workplaces and communities. Many persons with epilepsy find it more challenging to overcome misunderstandings and discrimination than the seizures themselves.
Let us overcome stigma with knowledge. Let’s talk about epilepsy on #InternationalEpilepsyDay.
What is Epilepsy?
The word ‘epilepsy’ is derived from the Greek word meaning ‘to be seized, to be overwhelmed by surprise’. To have epilepsy is to have a tendency to have recurring epileptic fits, also called seizures, that means, uncontrolled electric activity in the brain.
Our brain is responsible for so many functions of our body. Nerve cells in our brain talk to each other, by transmitting electrical signals. The brains electrical activity in summary creates conscious, emotions and movements. Sometimes, neurons fire electrical signals outside of control.
In epilepsy, the brain or some parts of the brain are overactive and send too many signals. A seizure happens when there is a sudden burst of intense electrical activity in the brain. This is often referred to as epileptic activity. The epileptic activity causes a temporary disruption to the way the brain normally works, so the brain’s messages become mixed up.
Seizures can cause a wide range of symptoms. What happens to you during a seizure will depend on where in your brain the epileptic activity begins, and how widely and quickly it spreads. For this reason, there are many different types of seizure, and each person will experience epilepsy in a way that is unique to them.
What Causes Epilepsy?
There are many types of epilepsy. Some types start from early childhood, and some in later life. Some types last for a short time and other types can last for the whole life.
Sometimes the reason epilepsy develops is clear. A brain damage caused by a difficult birth, a severe blow to the head, a stroke, or an infection of the brain such as meningitis may give rise to epilepsy. Sometimes, specific genetic variations are linked to epilepsy which therefore occur more frequently in some families. In about half of people who have epilepsy, doctors don’t know the cause of their condition.
The causes of epilepsy are divided into the following six categories:
Structural Causes of Epilepsy
A structural cause refers to brain abnormalities that are visible on structural neuroimages, such as an MRI. A person can acquire structural brain damage through a stroke, a head trauma, or it can be caused by genetic mutations during brain development.
Genetic Causes of Epilepsy
When a patient’s epilepsy is the direct result of a genetic mutation, they are considered to have a genetic cause. Epilepsies with a genetic cause can be extremely diverse and the underlying genes are not always known. It’s important to note that genetic epilepsy does not automatically mean that it was inherited, or passed down from a parent, meaning that the mutations can be present in an individual, but not their parents. There is a 50% chance that a patient with a “de novo” genetic mutation (a genetic alteration that is present for the first time in one family member) will pass this trait down to their children.
There are about 50 genetic epilepsies for which the underlying genetic variant is identified. You may find more information on specific genetic epilepsy diseases at https://www.epilepsy.com/causes/genetic.
Metabolic Causes of Epilepsy
A metabolic disorder occurs when the process by which the body makes energy is disrupted or performs abnormally. Our body makes energy from the protein, carbohydrates, and fats in food that we eat. Chemicals break down the food into energy that can be used or stored. In some metabolic disorders, the abnormality affects the brain and increases the risk of epilepsy. Many metabolic epilepsies have a genetic origin (both inherited and de novo), though in extremely rare cases it can be acquired.
Identifying a metabolic cause can have significant implications on how epilepsy is treated. You may find more information about metabolic diseases causing epilepsy at https://www.epilepsy.com/causes/metabolic.
Immunologic Causes of Epilepsy
When our body recognizes a foreign agent (such as a virus), it protects itself by initiating an immune response. In some cases, our body may incorrectly identify itself as a foreign entity and begin attacking itself. The autoimmune response may cause to have seizures. Examples of autoimmune epilepsy are Rasmussen’s encephalitis (also known as Rasmussen’s syndrome), limbic encephalitis, and GAD65 antibody-associated encephalitis.
Unknown Cause of Epilepsy
In approximately every second person who is diagnosed with epilepsy, the physician cannot make a specific diagnosis beyond that. In some cases, this is because there is still much, we do not know about epilepsy. In other cases, this may occur because the patient does not have access to all of the proper diagnostic tests in order for their healthcare professionals to make an accurate diagnosis.
What Are Symptoms of Epilepsy?
Epileptic seizures can vary greatly from person to person. Some only last a few seconds and even go unnoticed, some only affect one arm or one leg, whereas others affect the whole body. Sometimes people become unconscious, sometimes they are just mentally absent for a short while, and sometimes they remain fully conscious.
Epileptic seizures don’t usually last very long. If a seizure lasts longer than five minutes, it is referred to as “status epilepticus.” This is a medical emergency requiring immediate treatment with medication. People may also have several seizures within a short space of time.
There are two main categories of epileptic seizures.
Generalized Seizures
Generalized seizures affect the whole brain. They aren’t necessarily worse than seizures that affect individual parts of the brain (partial seizures). But generalized seizures are more likely to lead to loss of consciousness and make the whole body convulse.
There are different types of generalized seizures:
Tonic seizures: Arms and legs become rigid and stiff. This kind of seizure usually passes quite quickly and doesn’t always affect the state of consciousness.
Atonic seizures (“drop attacks”): Here the muscles in one part of the body suddenly become limp. As a result, legs might give way, for instance, and persons may also briefly become unconscious and fall.
Clonic seizures: Large muscle groups – for instance in the arms or legs – jerk in a slow rhythm. This is usually accompanied by loss of consciousness.
Myoclonic seizures: Individual muscle groups twitch rapidly. The state of consciousness is usually not affected.
Tonic-clonic seizures (sometimes called “grand mal seizures”): The whole body convulses and twitches, and persons become unconscious.
Absence seizures (sometimes called “petit mal seizures”): In this mild type of seizure, people suddenly lose awareness (appear to “zone out”) for a brief moment.
Partial (Focal) Seizures
Partial seizures arise in just one part of the brain. The symptoms will depend on what that part of the brain is affected and may include things like twitching of the arm (motor disturbances), abnormal sensations (sensory disturbances) or changes in vision (visual disturbances).
When people have partial seizures, they may experience abnormal sensations, lose awareness, or hear, see or smell things differently. They may also feel dizzy, feel anxious or hallucinate. This is known as an aura. Some people smack their lips, grimace, stammer, walk around aimlessly or fiddle with things. Partial seizures may be accompanied by twitching or convulsions. Sometimes partial seizures affect your awareness or ability to concentrate.
Partial seizures may spread across the whole brain, resulting in a generalized seizure.
People with epilepsy usually don’t have any physical symptoms in between seizures.
How is Epilepsy Diagnosed ?
Diagnosing seizures and epilepsy can be challenging, as the type of seizure and its cause are not always clear. If you suspect you’ve had a seizure or if others have noticed periods when you seem unaware of your actions, it’s crucial to consult a doctor.
A diagnosis of epilepsy should be made by a doctor with specialist training in epilepsy. This doctor provider will evaluate your symptoms to determine if a seizure occurred and identify any underlying causes. For instance, seizures can sometimes be triggered by other medical conditions, such as diabetes, which would require treatment for that specific condition.
Early diagnosis and treatment are essential for managing symptoms effectively and improving quality of life. Diagnosing epilepsy requires a combination of tests that help distinguish it from other conditions. Some of the most common tests used for diagnosing epilepsy are
Electroencephalogram (EEG) For Epilepsy
An EEG is one of the most crucial tests for epilepsy diagnosis. It records electrical activity in the brain, identifying unusual patterns that may indicate a seizure disorder. During an EEG, electrodes are placed on the scalp, and the test records brain wave patterns that are searched for abnormalities. Patients may undergo this test while awake or asleep to capture any seizure activity.
Magnetic Resonance Imaging (MRI) For Epilepsy
MRI uses powerful magnets and radio waves to create detailed images of the brain’s structure. This imaging test is particularly useful in identifying physical brain abnormalities or lesions that could be causing seizures.
Computed Tomography (CT) Scan For Epilepsy
A CT scan is often used in emergency situations to identify any potential brain injuries or bleeding that could trigger seizures.
Blood Tests For Epilepsy
Although blood tests do not directly diagnose epilepsy, they help rule out other potential causes of seizures, such as infections, metabolic disorders, or genetic conditions.
Neuropsychological Testing For Epilepsy
Neuropsychological tests assess cognitive and memory functions. They can provide insight into how epilepsy affects brain function and impacts daily life, which is particularly useful for tailoring treatment plans.
What Are Epilepsy Syndromes?
In addition to seizure type and epilepsy type, a person’s epilepsy diagnosis may be further categorized by their epilepsy syndrome. An epilepsy syndrome is characterized by a distinct cluster of clinical features, signs, or symptoms in addition to seizures. Not everyone has an epilepsy syndrome, but correctly diagnosing a syndrome can impact and improve patient outcomes.
While there are many epilepsy syndromes, several are more common than others.
How Are Epilepsy Syndromes Classified?
It is important to accurately classify epilepsy syndromes as it helps the doctor precisely diagnose the person’s epilepsy and prescribe antiseizure medications (ASMs) that are most likely to be effective. Additionally, classifying epilepsy syndromes also gives a better idea of the prognosis that is relevant to the person, and helps the doctor predict whether lifelong ASM therapy is needed, or if there is a chance that the person may eventually be able to be weaned off the ASM.
Dravet Syndrome
Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI) is a rare epilepsy syndrome that occurs in early infancy or childhood. Symptoms of Dravet syndrome may range from mild to severe.
Children that have Dravet syndrome show seizures often before they reach age one.
As many as 80% of cases of Dravet syndrome are caused by defects in a gene called SCN1A. This gene codes for the sodium channel, which is essential for brain functioning. Dravet syndrome can be diagnosed with genetic testing to determine whether there are mutations in the SCN1A gene.
Children with Dravet syndrome have focal or generalized seizures that are often prolonged and may be provoked by a change in temperature, for example, when the child gets out of a bath. As the child grows older, other seizure types may appear.
Seizures in Dravet syndromes can be controlled to some extent by ASMs. Some ASMs, like cannabidiol and fenfluramine, are used in children aged two and over.
Seizures in Dravet syndrome typically lessen in number and duration with age, and cognitive function usually stabilizes.
Lennox-Gastaut Syndrome (LGS Syndrome)
Lennox-Gastaut syndrome is a severe epilepsy syndrome where the person has multiple types of seizures that vary between individuals. Seizures in Lennox-Gastaut Syndrome occur in early childhood, usually before the child is four years of age.
The causes of LGS could be defects in brain development, tuberous sclerosis, lack of oxygen in the perinatal period, head injury, infection, or genetic or metabolic defects. Many times, the cause may be unidentifiable.
There are many types of seizures seen in LGS. An individual may have tonic seizures, staring spells, atonic seizures (where there is a brief loss of muscle tone potentially leading to a fall), myoclonic seizures, and generalized tonic-clonic seizures. There may be periods where there are many seizures, interspersed with periods where there are relatively few.
LGS may be difficult to treat, but several ASMs may be used to control seizures. Recently, cannabidiol was approved for the treatment of LGS in children two and older. The ketogenic diet, vagus nerve stimulation, and epilepsy surgery may also be done.
The prognosis for LGS depends on the severity of seizures and varies from person to person. Unfortunately, complete recovery is rare.
West Syndrome (Infantile Spasms)
West Syndrome is an epilepsy syndrome that is seen in infancy and childhood and is characterized by spasms which is a specific type of seizure. The onset of West syndrome is typically in the first year of a child’s life, usually between four and eight months.
Some causes of West syndrome are brain injury during birth, disorders of metabolism, and genetic defects. Sometimes, no cause may be found.
The spasms in West syndrome look like the child is suddenly bending forward and stiffening their arms and legs for 1-2 seconds. There may be arching of the back as well. Spasms usually occur in clusters, and there may be hundreds of spasms per day.
Hormonal therapy is the first-line treatment, along with certain ASMs. If the spasms are a result of brain injury, epilepsy surgery to remove the part of the brain may be helpful. Since ongoing spasms have the potential to negatively impact brain development, it is necessary to start therapy as soon as possible.
The prognosis of children with West syndrome depends on the underlying cause. If treatment was quick, and if the child was developing normally before the spasms appeared, they may do well. Sometimes, children with West syndrome may develop additional types of syndromes such as Lennox-Gastaut syndrome.
Genetic Febrile Seizures Plus (GEFS+)
Genetic febrile seizures plus, abbreviated to GEFS+, is an epilepsy syndrome typically seen in families. When two or more members of a family exhibit seizures typical of GEFS+, the family is defined as a “GEFS+ family.”
GEFS+ is usually seen in infancy through age five. Sometimes, children five and older may develop febrile seizures. Seizures in GEFS+ end in adolescence.
Mutations in genes such as SCN1A, SCN1B, and GABRG2 are often involved in the febrile seizures seen in GEFS+. The most common types of seizures in GEFS+ are simple febrile seizures or febrile seizures plus (FS+). Simple febrile seizures begin in infancy and stop at age five. If febrile seizures last beyond age five, they are called FS+.
The most important method to diagnose GEFS+ is the family history. The doctor may want to talk to the patient’s extended family to see if anyone remembers a family member having febrile seizures. Other tests are EEG, MRI, and genetic testing.
ASMs are usually able to control seizures in GEFS+. Rarely, dietary therapies such as the ketogenic diet, or epilepsy surgery may be used.
Seizures in GEFS+ may stop by adolescence in which case ASMs can be tapered off and eventually stopped. Usually, development is normal.
Myoclonic Atonic Epilepsy (MAE)
Myoclonic atonic epilepsy (MAE), commonly known as Doose syndrome, is a rare childhood epilepsy syndrome. The first seizure in MAE occurs between 2-6 years of age, with boys being more affected than girls.
About one-third of children with MAE have a genetic mutation in one of the following genes: SCN1A, SCN1B, SCN2A, SLC2A1, CHD2, SYNGAP1, or KIAA2022.
MAE is associated with many types of seizures such as generalized tonic-clonic seizures, drop seizures, absence seizures, and myoclonic seizures.
MAE is diagnosed based on the description of seizures, as well as information from the EEG and MRI. MAE may be treated using ASMs, though sometimes, it may be difficult to treat. Some medications should be avoided as they can worse seizure types. Early adoption of the ketogenic diet may be effective in treating MAE.
About two-thirds of children with MAE outgrow their epilepsy and can go off of medication. The remaining one-third may have sustained intellectual disability.
Epileptic Encephalopathy With Continuous Waves During Sleep (CSWS)
Epilepsy with continuous spike-wave during sleep, abbreviated to CSWS is a rare form of childhood epilepsy syndrome. Children may be developing normally before seizures appear, but seizures may be accompanied by slow cognitive decline.
CSWS begins in children when they are between two and 12 years of age. Typically, seizure onset is at four or five years of age. Boys are usually more affected by CSWS than girls.
CSWS may be caused by brain defects, genetic mutations, or metabolic disorders. A mutation in the gene GRIN2A has been shown to play a role in CSWS.
Seizures in CSWS may be of many types: focal seizures that progress to generalized seizures, atonic seizures, and absence seizures.
As the name suggests, seizures usually occur in sleep. CSWS is diagnosed with a thorough family history, a description of seizures, and the child’s developmental trajectory. EEG (sometimes a video-EEG) that is done overnight to capture seizures during sleep may be done. Genetic tests may also be done.
ASMs are used to control seizures in CSWS. Often, more than one ASM is used. If seizures persist even after multiple ASMs, epilepsy surgery may be done.
Children with CSWS may improve as they approach adolescence, their seizures may decrease, and cognitive functioning may get better. In some children, abnormalities in EEG may be seen even as they transition into adulthood.
Childhood Absence Epilepsy (CAE)
Childhood absence epilepsy, abbreviated CAE, is an epilepsy syndrome that begins in young children and is characterized by absence seizures. CAE is typically seen when children are between four and eight years old.
The causes for CAE are complex and not completely understood. However, a combination of genetic and environmental factors is thought to be at play. Mutations in a gene called GABRA1 may be seen in some children with CAE. Other mutations may be in genes for ion channels that are responsible for the proper functioning of the brain.
The main symptom of CAE is the absence seizures. These seizures last 10-20 seconds. The child may stare blankly and be unresponsive. There may be blinking of the eyes and repetitive movements like chewing. Seizure episodes end abruptly, and children may have many absence seizures a day.
A description of the staring spells is most important in diagnosing CAE, as is EEG. Hyperventilation and exposure to rapid, flashing lights may be done to provoke a seizure and capture its brainwaves.
ASMs such as ethosuximide, lamotrigine, and valproic acid manage seizures in CAE. If ASMs are not effective in controlling absence seizures, the ketogenic diet may be recommended.
Two-thirds of children with CAE respond well to treatment, the seizures disappear by adolescence, and the ASMs can be weaned off. The remaining one-third of children may develop other seizure types in adolescence.
Juvenile Myoclonic Epilepsy (JME)
Juvenile myoclonic epilepsy, abbreviated to JME is a common epilepsy syndrome that begins in adolescence. While the exact gene causing JME is not known, JME is inherited, as more than half of individuals with JME report a family member with seizures.
The most common seizure type in JME is called “myoclonic” seizures, which are characterized by sudden, shock-like muscle jerks in the arms or fingers.
Myoclonic seizures can be triggered by lack of sleep, fatigue, stress, and flashing lights. Individuals with JME may also have generalized tonic-clonic seizures and absence seizures.
JME is diagnosed using a description of the person’s seizures, family history, and EEG. The EEG brain waves in JME have a characteristic “spike and wave” pattern.
While ASMs are useful in JME, the most important is education around lifestyle modifications around seizure triggers and their management.
Individuals with JME should get adequate sleep and rest and should refrain from alcohol. Fortunately, seizures in JME are well-controlled. Sometimes lifelong ASMs may be necessary. In some people with mild JME, weaning off the ASM may be a possibility.
Treatment of Epilepsy
The most suitable kind of treatment for a specific person will depend on the type of epilepsy they have and the course of their disease so far.
Seizures are often one-off events, so you can usually wait before having any treatment. People typically only start treatment if they have a second seizure. But if you have a higher risk of further seizures, for example if you have a brain disease, then it may be a good idea to already start with treatment after the first seizure. It is important to discuss your personal situation with your doctor.
Anti-Epileptic Drugs
Epilepsy is usually treated with medication known as anti-epileptic drugs (AEDs). Various kinds of medications – from different groups of drugs – can be used as AEDs. If a certain medication doesn’t work at a low dose, the dose can be increased. If that doesn’t work, a medication from a different group of drugs can be tried out or several medications can be used together.
Medication usually is taken for several years. If people don’t have any seizures during that time, some can stop taking the medication and see what happens. Others have to take medication for the rest of their lives.
Anti-epileptic drugs can have side effects like tiredness or dizziness. There are also sometimes specific risks, for example ones affecting an unborn baby during pregnancy. Then it’s especially important to discuss the options in detail with your doctor.
If seizures can’t be prevented with medication, other options may be considered. These include the following:
Epilepsy Surgery
If someone has partial seizures and it is clear which part of the brain is triggering them, that part of the brain can be surgically removed. In very young children even large parts of the brain can be removed and remaining parts can take over the function. Epilepsy surgery is not always possible.
Vagus Nerve Stimulation
In this procedure, a device that produces electrical signals is implanted in the chest area. It is connected to the vagus nerve in the neck by wires and is meant to prevent the nerve cells from being too active. The vagus nerve is an important part of the vegetative nervous system and is involved in regulating the body’s internal organs. So far there are only a few good-quality studies on the benefits of this treatment. As a result, health insurance companies may cover the costs of vagus nerve stimulation only in very specific cases and circumstances.
Deep Brain Stimulation (DBS)
DBS is a neuromodulation device that sends electrical pulses through wires to the specific areas of the brain involved with seizures. The DBS stimulator is placed in the left pectoral muscle of the chest. The connected DBS electrodes are typically placed inside the thalamus, which is a structure near the center of the brain. The electrical pulses block signals from the nerve cells that trigger a seizure.
DBS is approved for use as adjunctive therapy (used with antiseizure medications) in adult people with specific types of seizures that have not responded to three or more antiseizure medications.
Responsive Neurostimulation (RNS)
The RNS System® is a neuromodulation device that uses electrical stimulation to prevent and treat seizures. The RNS System is implanted near the seizure focus within the skull . Rather than delivering stimulation continuously or on a set schedule, it monitors brainwaves for a person’s unique seizure pattern. If it detects abnormal or unusual activity at the seizure focus (where the seizure starts), it delivers a brief pulse of electrical stimulation to prevent or stop a seizure.
RNS is approved for use as adjunctive therapy (used with antiseizure medications) in adult people with specific types of seizures that have not responded to two or more antiseizure medications.
Ketogenic Diet
The classic ketogenic diet, a special high-fat, low-carbohydrate diet, is prescribed and monitored by a physician and nutritionist and can help control seizures in some people.
It is usually used in children with seizures that do not respond to medications. It is stricter than the modified Atkins diet, requiring careful measurements of calories, fluids, and proteins. Foods are weighed and measured.
The name ketogenic means that it produces ketones in the body. (keto = ketone; genic = producing) Ketones are formed when the body uses fat for its source of energy. Usually the body uses carbohydrates (such as sugar, bread, pasta) for its fuel. Because the ketogenic diet is very low in carbohydrates, fats become the primary fuel instead. The body can work very well on ketones (and fats).
Ketones are not dangerous. They can be detected in the urine, blood, and breath. Ketones are one of the more likely mechanisms of action of the diet, with higher ketone levels often leading to improved seizure control. However, there are many other theories for why the diet will work.
Gender Or Age Specific Aspects of Treatment
Teenage girls and women with epilepsy might need professional advice about specific issues such as contraception, pregnancy and breastfeeding. Older people and people with a mental disability also often have particular challenges that require specialist advice.
Living With Epilepsy
Living with epilepsy is more than just knowing your type of seizures or what medicine to take. You need to learn how to manage and respond to seizures in a variety of situations. The best way to manage seizures is through the right preparation, the right treatment, and teamwork.
It’s important to stay actively involved and take charge of your treatment as much as possible. Learn how to track seizures, manage your seizure triggers, and work with your healthcare team to take control of your seizures and epilepsy.
Find more Information at the Emirati League Against Epilepsy,
Sharing this blog is sharing Know How to control epilepsy.
Your Health Matters!
A contribution by Dr. Gabriele Stumm,
